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4. Metabolic Response in Endothelial Cells to Catecholamine Stimulation Associated with Increased Vascular Permeability

Author

López García de Lomana, Adrián, Vilhjálmsson, Arnar Ingi, McGarrity, Sarah, Sigurðardóttir, Rósa, Anuforo, Ósk, Viktorsdóttir, Alexía Rós, Kotronoulas, Aris, Bergmann, Andreas, Franzson, Leifur, Halldórsson, Haraldur, Henriksen, Hanne H., Wade, Charles E., Johansson, Pär Ingemar, Rolfsson, Óttar, López García de Lomana, Adrián, Vilhjálmsson, Arnar Ingi, McGarrity, Sarah, Sigurðardóttir, Rósa, Anuforo, Ósk, Viktorsdóttir, Alexía Rós, Kotronoulas, Aris, Bergmann, Andreas, Franzson, Leifur, Halldórsson, Haraldur, Henriksen, Hanne H., Wade, Charles E., Johansson, Pär Ingemar, and Rolfsson, Óttar

Abstract

Disruption to endothelial cell homeostasis results in an extensive variety of human pathologies that are particularly relevant to major trauma. Circulating catecholamines, such as adrenaline and noradrenaline, activate endothelial adrenergic receptors triggering a potent response in endothelial function. The regulation of the endothelial cell metabolism is distinct and profoundly important to endothelium homeostasis. However, a precise catalogue of the metabolic alterations caused by sustained high catecholamine levels that results in endothelial dysfunction is still under-explored. Here, we uncover a set of up to 46 metabolites that exhibit a dose–response relationship to adrenaline-noradrenaline equimolar treatment. The identified metabolites align with the glutathione-ascorbate cycle and the nitric oxide biosynthesis pathway. Certain key metabolites, such as arginine and reduced glutathione, displayed a differential response to treatment in early (4 h) compared to late (24 h) stages of sustained stimulation, indicative of homeostatic metabolic feedback loops. Furthermore, we quantified an increase in the glucose consumption and aerobic respiration in endothelial cells upon catecholamine stimulation. Our results indicate that oxidative stress and nitric oxide metabolic pathways are downstream consequences of endothelial cell stimulation with sustained high levels of catecholamines. A precise understanding of the metabolic response in endothelial cells to pathological levels of catecholamines will facilitate the identification of more efficient clinical interventions in trauma patients.

Published
2022

5. Metabolic Response in Endothelial Cells to Catecholamine Stimulation Associated with Increased Vascular Permeability

Author

López García de Lomana, Adrián, primary, Vilhjálmsson, Arnar Ingi, additional, McGarrity, Sarah, additional, Sigurðardóttir, Rósa, additional, Anuforo, Ósk, additional, Viktorsdóttir, Alexía Rós, additional, Kotronoulas, Aris, additional, Bergmann, Andreas, additional, Franzson, Leifur, additional, Halldórsson, Haraldur, additional, Henriksen, Hanne H., additional, Wade, Charles E., additional, Johansson, Pär Ingemar, additional, and Rolfsson, Óttar, additional

Published
2022
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7. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Author

Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O´Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C. J. I., Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O´Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, and Schielen, Peter C. J. I.

Abstract

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.

Published
2021

9. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Author

Loeber, J. Gerard, primary, Platis, Dimitris, additional, Zetterström, Rolf H., additional, Almashanu, Shlomo, additional, Boemer, François, additional, Bonham, James R., additional, Borde, Patricia, additional, Brincat, Ian, additional, Cheillan, David, additional, Dekkers, Eugenie, additional, Dimitrov, Dobry, additional, Fingerhut, Ralph, additional, Franzson, Leifur, additional, Groselj, Urh, additional, Hougaard, David, additional, Knapkova, Maria, additional, Kocova, Mirjana, additional, Kotori, Vjosa, additional, Kozich, Viktor, additional, Kremezna, Anastasiia, additional, Kurkijärvi, Riikka, additional, La Marca, Giancarlo, additional, Mikelsaar, Ruth, additional, Milenkovic, Tatjana, additional, Mitkin, Vyacheslav, additional, Moldovanu, Florentina, additional, Ceglarek, Uta, additional, O'Grady, Loretta, additional, Oltarzewski, Mariusz, additional, Pettersen, Rolf D., additional, Ramadza, Danijela, additional, Salimbayeva, Damilya, additional, Samardzic, Mira, additional, Shamsiddinova, Markhabo, additional, Songailiené, Jurgita, additional, Szatmari, Ildiko, additional, Tabatadze, Nazi, additional, Tezel, Basak, additional, Toromanovic, Alma, additional, Tovmasyan, Irina, additional, Usurelu, Natalia, additional, Vevere, Parsla, additional, Vilarinho, Laura, additional, Vogazianos, Marios, additional, Yahyaoui, Raquel, additional, Zeyda, Maximilian, additional, and Schielen, Peter C.J.I., additional

Published
2021
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12. Relationship between serum parathyroid hormone levels, vitamin D sufficiency, and calcium intake

Author

Steingrimsdottir, Laufey, Gunnarsson, Orvar, Indridason, Olafur S., Franzson, Leifur, and Sigurdsson, Gunnar

Subjects
Calcium, Dietary -- Health aspects, Calcium, Dietary -- Research, Parathyroid hormone -- Research, Vitamin D deficiency -- Risk factors, Vitamin D deficiency -- Care and treatment
Abstract

The relative importance of high calcium intake and serum 25-hydroxyvitamin D for calcium homeostasis, as determined by serum intact parathyroid hormone is investigated. Calcium intake levels of more than 800 mg/d might be unnecessary for maintaining calcium metabolism as long as vitamin D status is ensured.

Published
2005

18. Raising awareness of false positive newborn screening results arising from pivalate-containing creams and antibiotics in Europe when screening for isovaleric acidaemia

Author

Bonham, James R., Carling, Rachel S., Lindner, Martin, Franzson, Leifur, Zetterstrom, Rolf, Boemer, Francois, Cerone, Roberto, Eyskens, Francois, Vilarinho, Laura, Hougaard, David Michael, Schielen, Peter C. J. I., Bonham, James R., Carling, Rachel S., Lindner, Martin, Franzson, Leifur, Zetterstrom, Rolf, Boemer, Francois, Cerone, Roberto, Eyskens, Francois, Vilarinho, Laura, Hougaard, David Michael, and Schielen, Peter C. J. I.

Abstract

While the early and asymptomatic recognition of treatable conditions offered by newborn screening confers clear health benefits for the affected child, the clinical referral of patients with screen positive results can cause significant harm for some families. The use of pivalate-containing antibiotics and more recently the inclusion of neopentanoate as a component within moisturising creams used as nipple balms by nursing mothers can result in a significant number of false positive results when screening for isovaleric acidaemia (IVA) by measuring C5 acylcarnitine. A recent survey conducted within centres from nine countries indicated that this form of contamination had been or was a significant confounding factor in the detection of IVA in seven of the nine who responded. In three of these seven the prominent cause was believed to derive from the use of moisturising creams and in another three from antibiotics containing pivalate; one country reported that the cause was mixed. As a result, four of these seven centres routinely perform second tier testing to resolve C5 isobars when an initial C5 result is elevated, and a fifth is considering making this change within their national programme. The use of creams containing neopentanoate by nursing mothers and evolving patterns in the prescription of pivalate-containing antibiotics during pregnancy require those involved in the design and operation of newborn screening programmes used to detect IVA and the doctors who receive clinical referrals from these programmes to maintain an awareness of the potential impact of this form of interference on patient results.

Published
2018

19. Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

Author

Bonham, James, primary, Carling, Rachel, additional, Lindner, Martin, additional, Franzson, Leifur, additional, Zetterstrom, Rolf, additional, Boemer, Francois, additional, Cerone, Roberto, additional, Eyskens, Francois, additional, Vilarinho, Laura, additional, Hougaard, David, additional, and Schielen, Peter, additional

Published
2018
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20. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, Hoffman, Gary L, UCL - (SLuc) Service de biochimie médicale, Marquardt, Gregg, Currier, Robert, McHugh, David M S, Gavrilov, Dimitar, Magera, Mark J, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H, Tortorelli, Silvia, Turgeon, Coleman T, Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C, Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y, Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R, Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Atef Mandour, Iman, Atty Sharaf, Sahar Abdel, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L, Papakonstantinou, Vagelis, Zacharioudakis, Georgios S A, Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J, Breen, Nancy N, Lesko, Barbara G, Berberich, Stanton L, Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, la Marca, Giancarlo, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M, Peterson, Colleen K, Mayfield Gibson, Stephanie K, Sevier, Darrin W, Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S, Eaton, Roger B, Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A, Stanley, Eleanor L, Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V, de Sain-Van der Velden, Monique G, Elvers, Bert, Morrissey, Mark A, Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M, McClure, Julie D, Sesser, David E, Willis, Sharon A, Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E, Cocho de Juan, Jose Angel, Rueda Fernández, Inmaculada, Yahyaoui Macías, Raquel, Egea-Mellado, José María, González-Gallego, Inmaculada, Delgado Pecellin, Carmen, García-Valdecasas Bermejo, Maria Sierra, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D, Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, and Hoffman, Gary L

Abstract

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%. © 2012 American College of Medical Genetics and Genomics.

Published
2012

21. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M., UCL - (SLuc) Service de biochimie médicale, McHugh, David M. S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E. Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, Cocho De Juan, Jose Angel, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, De Sain-Van Der Velden, Monique G., Pecellin, Carmen Delgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R. C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón J., Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, La Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L. Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, Von Döbeln, Ulrika, Vincent, Marie-Françoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M.

Abstract

PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.

Published
2011

22. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, Zakowicz Wendy M., McHugh David M. S., Cameron Cynthia A., Abdenur Jose E., Abdulrahman Mahera, Adair Ona, Al Nuaimi Shahira Ahmed, Ahlman Henrik, Allen Jennifer J., Antonozzi Italo, Archer Shaina, Au Sylvia, Auray-Blais Christiane, Baker Mei, Bamforth Fiona, Beckmann Kinga, Pino Gessi Bentz, Berberich Stanton L., Binard Robert, Boemer Francois, Bonham Jim, Breen Nancy N., Bryant Sandra C., Caggana Michele, Caldwell S. Graham, Camilot Marta, Campbell Carlene, Carducci Claudia, Cariappa Rohit, Carlisle Clover, Caruso Ubaldo, Cassanello Michela, Miren Castilla Ane, Castineiras Ramos Daisy E., Chakraborty Pranesh, Chandrasekar Ram, Ramos Alfredo Chardon, Cheillan David, Chien Yin-Hsiu, Childs Thomas A., Chrastina Petr, Sica Yuri Cleverthon, Cocho de Juan Jose Angel, Elena Colandre Maria, Cornejo Espinoza Veronica, Corso Gaetano, Currier Robert, Cyr Denis, Czuczy Noemi, D'Apolito Oceania, Davis Tim, de Sain-Van der Velden Monique G., Delgado Pecellin Carmen, Di Gangi Iole Maria, Di Stefano Cristina Maria, Dotsikas Yannis, Downing Melanie, Downs Stephen M., Dy Bonifacio, Dymerski Mark, Rueda Inmaculada, Elvers Bert, Eaton Roger, Eckerd Barbara M., El Mougy Fatma, Eroh Sarah, Espada Mercedes, Evans Catherine, Fawbush Sandy, Fijolek Kristel F., Fisher Lawrence, Franzson Leifur, Frazier Dianne M., Garcia Luciana R. C., Garcia-Valdecasas Bermejo Maria Sierra, Gavrilov Dimitar, Gerace Rosemarie, Giordano Giuseppe, Irazabal Yolanda Gonzalez, Greed Lawrence C., Grier Robert, Grycki Elyse, Gu Xuefan, Gulamali-Majid Fizza, Hagar Arthur F., Han Lianshu, Hannon W. Harry, Haslip Christa, Hassan Fayza Abdelhamid, He Miao, Hietala Amy, Himstedt Leslie, Hoffman Gary L., Hoffman William, Hoggatt Philis, Hopkins Patrick V., Hougaard David M., Hughes Kerie, Hunt Patricia R., Hwu Wuh-Liang, Hynes June, Ibarra-Gonzalez Isabel, Ingham Cindy A., Ivanova Maria, Jacox Ward B., John Catharine, Johnson John P., Jonsson Jon J., Karg Eszter, Kasper David, Klopper Brenda, Katakouzinos Dimitris, Khneisser Issam, Knoll Detlef, Kobayashi Hirinori, Koneski Ronald, Kozich Viktor, Kouapei Rasoul, Kohlmueller Dirk, Kremensky Ivo, la Marca Giancarlo, Lavochkin Marcia, Lee Soo-Youn, Lehotay Denis C., Lemes Aida, Lepage Joyce, Lesko Barbara, Lewis Barry, Lim Carol, Linard Sharon, Lindner Martin, Lloyd-Puryear Michele A., Lorey Fred, Loukas Yannis L., Luedtke Julie, Maffitt Neil, Magee J. Fergall, Manning Adrienne, Manos Shawn, Marie Sandrine, Hadachi Sonia Marchezi, Marquardt Gregg, Martin Stephen J., Matern Dietrich, Gibson Stephanie K. Mayfield, Mayne Philip, McCallister Tonya D., McCann Mark, McClure Julie, McGill James J., McKeever Christine D., McNeilly Barbara, Morrissey Mark A., Moutsatsou Paraskevi, Mulcahy Eleanor A., Nikoloudis Dimitris, Norgaard-Pedersen Bent, Oglesbee Devin, Oltarzewski Mariusz, Ombrone Daniela, Ojodu Jelili, Papakonstantinou Vagelis, Reoyo Sherly Pardo, Park Hyung-Doo, Pasquali Marzia, Pasquini Elisabetta, Patel Pallavi, Pass Kenneth A., Peterson Colleen, Pettersen Rolf D., Pitt James J., Poh Sherry, Pollak Arnold, Porter Cory, Poston Philip A., Price Ricky W., Queijo Cecilia, Quesada Jonessy, Randell Edward, Ranieri Enzo, Raymond Kimiyo, Reddic John E., Reuben Alejandra, Ricciardi Charla, Rinaldo Piero, Rivera Jeff D., Roberts Alicia, Rocha Hugo, Roche Geraldine, Greenberg Cheryl Rochman, Egea Mellado Jose Maria, Jess Juan-Fita Maria, Ruiz Consuelo, Ruoppolo Margherita, Rutledge S. Lane, Ryu Euijung, Saban Christine, Sahai Inderneel, Salazar Garcia-Blanco Maria Isabel, Santiago-Borrero Pedro, Schenone Andrea, Schoos Roland, Schweitzer Barb, Scott Patricia, Seashore Margretta R., Seeterlin Mary A., Sesser David E., Sevier Darrin W., Shone Scott M., Sinclair Graham, Skrinska Victor A., Stanley Eleanor L., Strovel Erin T., Jones April L. Studinski, Sunny Sherlykutty, Takats Zoltan, Tanyalcin Tijen, Teofoli Francesca, Thompson J. Robert, Tomashitis Kathy, Domingos Mouseline Torquado, Torres Jasmin, Torres Rosario, Tortorelli Silvia, Turi Sandor, Turner Kimberley, Tzanakos Nick, Valiente Alf G., Vallance Hillary, Vela-Amieva Marcela, Vilarinho Laura, von Doebeln Ulrika, Vincent Marie-Francoise, Vorster B. Chris, Watson Michael S., Webster Dianne, Weiss Sheila, Wilcken Bridget, Wiley Veronica, Williams Sharon K., Willis Sharon A., Woontner Michael, Wright Katherine, Yahyaoui Raquel, Yamaguchi, Seiji, Yssel Melissa, and Zakowicz Wendy M.

Published
2011

23. Enhanced interpretation of newborn screening results without analyte cutoff values

Author

Marquardt, Gregg, primary, Currier, Robert, additional, McHugh, David M.S., additional, Gavrilov, Dimitar, additional, Magera, Mark J., additional, Matern, Dietrich, additional, Oglesbee, Devin, additional, Raymond, Kimiyo, additional, Rinaldo, Piero, additional, Smith, Emily H., additional, Tortorelli, Silvia, additional, Turgeon, Coleman T., additional, Lorey, Fred, additional, Wilcken, Bridget, additional, Wiley, Veronica, additional, Greed, Lawrence C., additional, Lewis, Barry, additional, Boemer, François, additional, Schoos, Roland, additional, Marie, Sandrine, additional, Vincent, Marie-Françoise, additional, Sica, Yuri Cleverthon, additional, Domingos, Mouseline Torquado, additional, Al-Thihli, Khalid, additional, Sinclair, Graham, additional, Al-Dirbashi, Osama Y., additional, Chakraborty, Pranesh, additional, Dymerski, Mark, additional, Porter, Cory, additional, Manning, Adrienne, additional, Seashore, Margretta R., additional, Quesada, Jonessy, additional, Reuben, Alejandra, additional, Chrastina, Petr, additional, Hornik, Petr, additional, Mandour, Iman Atef, additional, Sharaf, Sahar Abdel Atty, additional, Bodamer, Olaf, additional, Dy, Bonifacio, additional, Torres, Jasmin, additional, Zori, Roberto, additional, Cheillan, David, additional, Vianey-Saban, Christine, additional, Ludvigson, David, additional, Stembridge, Adrya, additional, Bonham, Jim, additional, Downing, Melanie, additional, Dotsikas, Yannis, additional, Loukas, Yannis L., additional, Papakonstantinou, Vagelis, additional, Zacharioudakis, Georgios S.A., additional, Baráth, Ákos, additional, Karg, Eszter, additional, Franzson, Leifur, additional, Jonsson, Jon J., additional, Breen, Nancy N., additional, Lesko, Barbara G., additional, Berberich, Stanton L., additional, Turner, Kimberley, additional, Ruoppolo, Margherita, additional, Scolamiero, Emanuela, additional, Antonozzi, Italo, additional, Carducci, Claudia, additional, Caruso, Ubaldo, additional, Cassanello, Michela, additional, Marca, Giancarlo la, additional, Pasquini, Elisabetta, additional, Di Gangi, Iole Maria, additional, Giordano, Giuseppe, additional, Camilot, Marta, additional, Teofoli, Francesca, additional, Manos, Shawn M., additional, Peterson, Colleen K., additional, Mayfield Gibson, Stephanie K., additional, Sevier, Darrin W., additional, Lee, Soo-Youn, additional, Park, Hyung-Doo, additional, Khneisser, Issam, additional, Browning, Phaidra, additional, Gulamali-Majid, Fizza, additional, Watson, Michael S., additional, Eaton, Roger B., additional, Sahai, Inderneel, additional, Ruiz, Consuelo, additional, Torres, Rosario, additional, Seeterlin, Mary A., additional, Stanley, Eleanor L., additional, Hietala, Amy, additional, McCann, Mark, additional, Campbell, Carlene, additional, Hopkins, Patrick V., additional, de Sain–Van der Velden, Monique G., additional, Elvers, Bert, additional, Morrissey, Mark A., additional, Sunny, Sherlykutty, additional, Knoll, Detlef, additional, Webster, Dianne, additional, Frazier, Dianne M., additional, McClure, Julie D., additional, Sesser, David E., additional, Willis, Sharon A., additional, Rocha, Hugo, additional, Vilarinho, Laura, additional, John, Catharine, additional, Lim, James, additional, Caldwell, S. Graham, additional, Tomashitis, Kathy, additional, Castiñeiras Ramos, Daisy E., additional, de Juan, Jose Angel Cocho, additional, Fernández, Inmaculada Rueda, additional, Macías, Raquel Yahyaoui, additional, Egea-Mellado, José María, additional, González-Gallego, Inmaculada, additional, Pecellin, Carmen Delgado, additional, Bermejo, Maria Sierra García-Valdecasas, additional, Chien, Yin-Hsiu, additional, Hwu, Wuh-Liang, additional, Childs, Thomas, additional, McKeever, Christine D., additional, Tanyalcin, Tijen, additional, Abdulrahman, Mahera, additional, Queijo, Cecilia, additional, Lemes, Aída, additional, Davis, Tim, additional, Hoffman, William, additional, Baker, Mei, additional, and Hoffman, Gary L., additional

Published
2012
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25. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Author

McHugh, David M.S., primary, Cameron, Cynthia A., additional, Abdenur, Jose E., additional, Abdulrahman, Mahera, additional, Adair, Ona, additional, Al Nuaimi, Shahira Ahmed, additional, Åhlman, Henrik, additional, Allen, Jennifer J., additional, Antonozzi, Italo, additional, Archer, Shaina, additional, Au, Sylvia, additional, Auray-Blais, Christiane, additional, Baker, Mei, additional, Bamforth, Fiona, additional, Beckmann, Kinga, additional, Pino, Gessi Bentz, additional, Berberich, Stanton L., additional, Binard, Robert, additional, Boemer, François, additional, Bonham, Jim, additional, Breen, Nancy N., additional, Bryant, Sandra C., additional, Caggana, Michele, additional, Caldwell, S. Graham, additional, Camilot, Marta, additional, Campbell, Carlene, additional, Carducci, Claudia, additional, Cariappa, Rohit, additional, Carlisle, Clover, additional, Caruso, Ubaldo, additional, Cassanello, Michela, additional, Castilla, Ane Miren, additional, Ramos, Daisy E Castiñeiras, additional, Chakraborty, Pranesh, additional, Chandrasekar, Ram, additional, Ramos, Alfredo Chardon, additional, Cheillan, David, additional, Chien, Yin-Hsiu, additional, Childs, Thomas A., additional, Chrastina, Petr, additional, Sica, Yuri Cleverthon, additional, de Juan, Jose Angel Cocho, additional, Colandre, Maria Elena, additional, Espinoza, Veronica Cornejo, additional, Corso, Gaetano, additional, Currier, Robert, additional, Cyr, Denis, additional, Czuczy, Noemi, additional, D'Apolito, Oceania, additional, Davis, Tim, additional, de Sain-Van der Velden, Monique G., additional, De Pecellin, Carmen lgado, additional, Di Gangi, Iole Maria, additional, Di Stefano, Cristina Maria, additional, Dotsikas, Yannis, additional, Downing, Melanie, additional, Downs, Stephen M., additional, Dy, Bonifacio, additional, Dymerski, Mark, additional, Rueda, Inmaculada, additional, Elvers, Bert, additional, Eaton, Roger, additional, Eckerd, Barbara M., additional, El Mougy, Fatma, additional, Eroh, Sarah, additional, Espada, Mercedes, additional, Evans, Catherine, additional, Fawbush, Sandy, additional, Fijolek, Kristel F., additional, Fisher, Lawrence, additional, Franzson, Leifur, additional, Frazier, Dianne M., additional, Garcia, Luciana R.C., additional, Bermejo, Maria Sierra García-Valdecasas, additional, Gavrilov, Dimitar, additional, Gerace, Rosemarie, additional, Giordano, Giuseppe, additional, Irazabal, Yolanda González, additional, Greed, Lawrence C., additional, Grier, Robert, additional, Grycki, Elyse, additional, Gu, Xuefan, additional, Gulamali-Majid, Fizza, additional, Hagar, Arthur F., additional, Han, Lianshu, additional, Hannon, W. Harry, additional, Haslip, Christa, additional, Hassan, Fayza Abdelhamid, additional, He, Miao, additional, Hietala, Amy, additional, Himstedt, Leslie, additional, Hoffman, Gary L., additional, Hoffman, William, additional, Hoggatt, Philis, additional, Hopkins, Patrick V., additional, Hougaard, David M., additional, Hughes, Kerie, additional, Hunt, Patricia R., additional, Hwu, Wuh-Liang, additional, Hynes, June, additional, Ibarra-González, Isabel, additional, Ingham, Cindy A., additional, Ivanova, Maria, additional, Jacox, Ward B., additional, John, Catharine, additional, Johnson, John P., additional, Jónsson, Jón j, additional, Karg, Eszter, additional, Kasper, David, additional, Klopper, Brenda, additional, Katakouzinos, Dimitris, additional, Khneisser, Issam, additional, Knoll, Detlef, additional, Kobayashi, Hirinori, additional, Koneski, Ronald, additional, Kožich, Viktor, additional, Kouapei, Rasoul, additional, Kohlmueller, Dirk, additional, Kremensky, Ivo, additional, la Marca, Giancarlo, additional, Lavochkin, Marcia, additional, Lee, Soo-Youn, additional, Lehotay, Denis C., additional, Lemes, Aida, additional, Lepage, Joyce, additional, Lesko, Barbara, additional, Lewis, Barry, additional, Lim, Carol, additional, Linard, Sharon, additional, Lindner, Martin, additional, Lloyd-Puryear, Michele A., additional, Lorey, Fred, additional, Loukas, Yannis L., additional, Luedtke, Julie, additional, Maffitt, Neil, additional, Magee, J. Fergall, additional, Manning, Adrienne, additional, Manos, Shawn, additional, Marie, Sandrine, additional, Hadachi, Sônia Marchezi, additional, Marquardt, Gregg, additional, Martin, Stephen J., additional, Matern, Dietrich, additional, Gibson, Stephanie K. Mayfield, additional, Mayne, Philip, additional, McCallister, Tonya D., additional, McCann, Mark, additional, McClure, Julie, additional, McGill, James J., additional, McKeever, Christine D., additional, McNeilly, Barbara, additional, Morrissey, Mark A., additional, Moutsatsou, Paraskevi, additional, Mulcahy, Eleanor A., additional, Nikoloudis, Dimitris, additional, Norgaard-Pedersen, Bent, additional, Oglesbee, Devin, additional, Oltarzewski, Mariusz, additional, Ombrone, Daniela, additional, Ojodu, Jelili, additional, Papakonstantinou, Vagelis, additional, Reoyo, Sherly Pardo, additional, Park, Hyung-Doo, additional, Pasquali, Marzia, additional, Pasquini, Elisabetta, additional, Patel, Pallavi, additional, Pass, Kenneth A., additional, Peterson, Colleen, additional, Pettersen, Rolf D., additional, Pitt, James J., additional, Poh, Sherry, additional, Pollak, Arnold, additional, Porter, Cory, additional, Poston, Philip A., additional, Price, Ricky W., additional, Queijo, Cecilia, additional, Quesada, Jonessy, additional, Randell, Edward, additional, Ranieri, Enzo, additional, Raymond, Kimiyo, additional, Reddic, John E., additional, Reuben, Alejandra, additional, Ricciardi, Charla, additional, Rinaldo, Piero, additional, Rivera, Jeff D., additional, Roberts, Alicia, additional, Rocha, Hugo, additional, Roche, Geraldine, additional, Greenberg, Cheryl Rochman, additional, Mellado, José María Egea, additional, Juan-Fita, María Jesús, additional, Ruiz, Consuelo, additional, Ruoppolo, Margherita, additional, Rutledge, S. Lane, additional, Ryu, Euijung, additional, Saban, Christine, additional, Sahai, Inderneel, additional, García-Blanco, Maria Isabel Salazar, additional, Santiago-Borrero, Pedro, additional, Schenone, Andrea, additional, Schoos, Roland, additional, Schweitzer, Barb, additional, Scott, Patricia, additional, Seashore, Margretta R., additional, Seeterlin, Mary A., additional, Sesser, David E., additional, Sevier, Darrin W., additional, Shone, Scott M., additional, Sinclair, Graham, additional, Skrinska, Victor A., additional, Stanley, Eleanor L., additional, Strovel, Erin T., additional, Jones, April L Studinski, additional, Sunny, Sherlykutty, additional, Takats, Zoltan, additional, Tanyalcin, Tijen, additional, Teofoli, Francesca, additional, Thompson, J. Robert, additional, Tomashitis, Kathy, additional, Domingos, Mouseline Torquado, additional, Torres, Jasmin, additional, Torres, Rosario, additional, Tortorelli, Silvia, additional, Turi, Sandor, additional, Turner, Kimberley, additional, Tzanakos, Nick, additional, Valiente, Alf G., additional, Vallance, Hillary, additional, Vela-Amieva, Marcela, additional, Vilarinho, Laura, additional, von Döbeln, Ulrika, additional, Vincent, Marie-Francoise, additional, Vorster, B. Chris, additional, Watson, Michael S., additional, Webster, Dianne, additional, Weiss, Sheila, additional, Wilcken, Bridget, additional, Wiley, Veronica, additional, Williams, Sharon K., additional, Willis, Sharon A., additional, Woontner, Michael, additional, Wright, Katherine, additional, Yahyaoui, Raquel, additional, Yamaguchi, Seiji, additional, Yssel, Melissa, additional, and Zakowicz, Wendy M., additional

Published
2011
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26. Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

Author

Gudbjartsson, Daniel F., primary, Holm, Hilma, additional, Indridason, Olafur S., additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sulem, Patrick, additional, de Vegt, Femmie, additional, d'Ancona, Frank C. H., additional, den Heijer, Martin, additional, Wetzels, Jack F. M., additional, Franzson, Leifur, additional, Rafnar, Thorunn, additional, Kristjansson, Kristleifur, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Kiemeney, Lambertus A., additional, Kong, Augustine, additional, Palsson, Runolfur, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2010
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27. Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

Author

Gudbjartsson, Daniel F., primary, Holm, Hilma, additional, Indridason, Olafur S., additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sulem, Patrick, additional, de Vegt, Femmie, additional, d'Ancona, Frank C. H., additional, den Heijer, Martin, additional, Franzson, Leifur, additional, Rafnar, Thorunn, additional, Kristjansson, Kristleifur, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Kiemeney, Lambertus A., additional, Kong, Augustine, additional, Palsson, Runolfur, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2010
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29. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

Author

Thorleifsson, Gudmar, primary, Holm, Hilma, additional, Edvardsson, Vidar, additional, Walters, G Bragi, additional, Styrkarsdottir, Unnur, additional, Gudbjartsson, Daniel F, additional, Sulem, Patrick, additional, Halldorsson, Bjarni V, additional, de Vegt, Femmie, additional, d'Ancona, Frank C H, additional, den Heijer, Martin, additional, Franzson, Leifur, additional, Christiansen, Claus, additional, Alexandersen, Peter, additional, Rafnar, Thorunn, additional, Kristjansson, Kristleifur, additional, Sigurdsson, Gunnar, additional, Kiemeney, Lambertus A, additional, Bodvarsson, Magnus, additional, Indridason, Olafur S, additional, Palsson, Runolfur, additional, Kong, Augustine, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2009
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32. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Author

Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., McHugh, David M S, Cameron, Cynthia A, Abdenur, Jose E, Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J, Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L, Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N, Bryant, Sandra C, Caggana, Michele, Caldwell, S Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A, Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G, Delgado Pecellin, Carmen, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M, Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M, El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F, Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M, Garcia, Luciana R C, Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C, Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F, Han, Lianshu, Hannon, W Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L, Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V, Hougaard, David M, Hughes, Kerie, Hunt, Patricia R, Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A, Ivanova, Maria, Jacox, Ward B, John, Catharine, Johnson, John P, Jónsson, Jón J, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kozich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C, Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A, Lorey, Fred, Loukas, Yannis L, Luedtke, Julie, Maffitt, Neil, Magee, J Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J, Matern, Dietrich, Mayfield Gibson, Stephanie K, Mayne, Philip, McCallister, Tonya D, McCann, Mark, McClure, Julie, McGill, James J, McKeever, Christine D, McNeilly, Barbara, Morrissey, Mark A, Moutsatsou, Paraskevi, Mulcahy, Eleanor A, Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A, Peterson, Colleen, Pettersen, Rolf D, Pitt, James J, Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A, Price, Ricky W, Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E, Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero, Rivera, Jeff D, Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R, Seeterlin, Mary A, Sesser, David E, Sevier, Darrin W, Shone, Scott M, Sinclair, Graham, Skrinska, Victor A, Stanley, Eleanor L, Strovel, Erin T, Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G, Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B Chris, Watson, Michael S, Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K, Willis, Sharon A, Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, and Zakowicz, Wendy M

Abstract

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field., PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

33. Serum osteoprotegerin and its relationship with bone mineral density and markers of bone turnover

Author

Indridason, Olafur S, Franzson, Leifur, Sigurdsson, Gunnar, Indridason, Olafur S, Franzson, Leifur, and Sigurdsson, Gunnar

Abstract

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field, INTRODUCTION: The purpose of this study was to compare age-related differences in osteoprotegerin (OPG) in relationship with BMD and the serum bone markers osteocalcin (OC), collagen crosslinks (CTX), and tartrate-resistant acid phosphatase 5b (TRACP-5b). METHODS: Data were derived from a cross-sectional study on bone health in a random sample of community-dwelling adults aged 30 to 85 years in the Reykjavik area in Iceland. All subjects had whole body, hip, and lumbar spine BMD measured (by DXA), gave blood samples, and answered a thorough questionnaire on medications and medical history. We assessed relationships using the Spearman correlation coefficient, partial correlation, and multivariable linear regression. Men and women were analyzed separately. RESULTS: Of 2,310 subjects invited over 2 years, 1,630 participated. After excluding individuals with diseases and medications affecting bone metabolism, 517 women (age 56.1 +/- 16.9 years) and 491 men (age 58.7 +/- 14.9 years) remained for analysis. OPG increased steadily with age in both genders without a gender difference. In women, BMD at all sites declined steadily after age 50. In men, BMD remained relatively stable until age 70, after which it declined significantly. After controlling for age, BMI, and other confounding variables, OPG showed only a borderline positive relationship with whole body BMD in men (P = 0.10), but the relationship was nonsignificant in women. In multivariable models, OPG was inversely related to TRACP-5b (P = 0.002) and positively with OC (P = 0.007), the OC/TRACP-5b (P = 0.001) and OC/CTX (P = 0.02) ratios in women. Among men, multivariable models showed a positive association between OPG and OC (P = 0.05) and OC/TRACP-5b (P < 0.009). CONCLUSIONS: We conclude that serum OPG levels are associated with a profile of bone turnover markers favoring bone formation, suggesting that OPG may be protective against age-related bone loss. Longitudinal studies are needed to address that issue.

34. [Vitamin D status before and after metabolic and bariatric surgery at Landspitali].

Author

Gudlaugsdottir BL, Engilbertsdottir S, Franzson L, Gislason H, and Gunnarsdottir I

Subjects
Humans, Parathyroid Hormone, Quality of Life, Vitamin D, Bariatric Surgery adverse effects, Vitamin D Deficiency diagnosis, Vitamin D Deficiency epidemiology
Abstract

Introduction: Long-term results from bariatric surgery amongst individuals with obesity is considered good in general, with regard to weight loss, complications of obesity or quality of life. However, risk of nutrient deficiency might be increased. The aim of the study was to assess vitamin D status of patients before and after metabolic and bariatric surgery at Landspitali., Methods: Data on 25(OH)D concentration and parathyroid hormone (PTH) was retrieved from medical records for patients undergoing metabolic and bariatric surgery at Landspitali from 2001-2018 (n=539). Insufficient vitamin D status was defined as 25(OH)D concentration p<45 nmol/L in 2001-2012 but p<50 nnmol/L from 2013-2018, due to changes in analytical method during the study period. Vitamin D deficiency was defined as 25(OH)D p<30 nmol/L for both time periods. Guidelines on supplement use are provided before discharge from the hospital and up to 18 months after surgery, RESULTS: Mean concentration of 25(OH)D before surgery was 51 nmol/L (SD 30 nmol/L) and 278 (52%) had insufficient vitamin D status, of which quarter of subjects were defined as being vitamin D deficient. Concentration of 25(OH)D increased after surgery in majority of subjects (85%). However, about third of those defined as having insufficient vitamin D status before surgery still had insufficient status 18 months after surgery. When comparing time periods, 2001-2012 and 2013-2018 it can be seen that insufficient vitamin D status was less common in the second period, although still persistent in about 25% of cases before surgery and 8,5% 18 months after surgery., Conclusion: Insufficient vitamin D status is relatively common before metabolic and bariatric surgery at Landspitali. In large majority of subjects, 25(OH)D concentration increased after surgery, following recomendations on supplement intake. The results highlight the need for greater emphasis on correcting possible nutrient deficiencies before surgery.

Published
2021
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35. [Phenylketonuria (PKU) in Iceland].

Author

Oddason KE, Eiriksdóttir L, Franzson L, and Dagbjartsson A

Subjects
Biopterins analogs & derivatives, Biopterins therapeutic use, Diet, Protein-Restricted, Genetic Testing, Guideline Adherence, Humans, Iceland epidemiology, Incidence, Infant, Newborn, Mutation, Neonatal Screening methods, Phenylalanine Hydroxylase genetics, Phenylketonurias diagnosis, Phenylketonurias genetics, Phenylketonurias therapy, Practice Guidelines as Topic, Retrospective Studies, Time Factors, Treatment Outcome, Phenylketonurias epidemiology
Abstract

Introduction: PKU is a metabolic disorder caused by a mutation in the phenylalanine hydroxylase (PAH) gene. Icelandic neonatal screening for PKU started in 1972. The mutation causes a variable [corrected] dysfunction in PAH, that metabolizes phenylalanine (Phe) to tyrosine (Tyr) with the cofactor tetrahydrobiopterin (BH4). Accumulation of Phe causes mental retardation and seizures. Current therapy focuses on Phe-restrictive diet and newer methods like BH4 in large doses. The primary aim was to collect data about PKU in Iceland and evaluate therapy and screening. Additional focus was on BH4 therapy., Materials and Methods: Information was gathered from Landspitali medical charts retrospectively. Serum-Phe (S-Phe) measurements, age at initiation of therapy, PAH mutation types and information on current therapy was collected. RESULTS from BH4 loading tests were collected., Results: 27 patients have been diagnosed with PKU in Iceland since 1947. Incidence 1972-2008 is 1/8400 living births. Classic PKU is the most common presentation in Iceland. Patients diagnosed after screening started have normal intelligence. Age at initiation of therapy and S-Phe average values lower with time. 12 PAH mutation types have been found in Iceland. A novel Icelandic mutation, Y377fsdelT, did not respond to BH4 loading test. Two patients responded to a BH4 loading test and four other patients are likely to respond to BH4 loading test., Conclusion: PKU incidence in Iceland is slightly higher than in neighboring countries. Therapy compliance is adequate and international consensuses regarding therapy are met. PKU patients in Iceland are generally in good health. Screening is efficient and save. BH4 therapy is a an optional alternative therapy in Iceland.

Published
2011
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36. [Bone mineral density and bone turnover in systemic sclerosis].

Author

Alexandersson BT, Geirsson AJ, Olafsson I, Franzson L, Sigurdsson G, and Gudbjornsson B

Subjects
Absorptiometry, Photon, Aged, Bone Diseases, Metabolic diagnostic imaging, Bone Diseases, Metabolic metabolism, Bone Diseases, Metabolic physiopathology, Calcium urine, Case-Control Studies, Female, Humans, Iceland, Male, Middle Aged, Osteoporosis diagnostic imaging, Osteoporosis metabolism, Osteoporosis physiopathology, Registries, Scleroderma, Systemic complications, Scleroderma, Systemic physiopathology, Bone Density, Bone Diseases, Metabolic etiology, Bone Remodeling, Osteoporosis etiology, Scleroderma, Systemic diagnosis
Abstract

Aims: To elucidate bone mineral density (BMD) and bone turnover in an un-selected group of patients with Systemic Sclerosis (SSc) in national based registry., Material and Methods: All patients who have been diagnosed with SSc in Iceland were invited to participate in the study. Participants underwent standardized interview and delivered urine and blood samples for measurements of various bone metabolites (e.g. PTH, osteocalcin, Cross Laps, PINP, IGF-1, Cystatin-C and 25-OH-vitamin-D), before they underwent measurement of BMD with DEXA (QDR 4500 Elite)., Results: Twenty-four individuals, 20 female and four male, of 29 diagnosed patients with SSc in Iceland accepted to participate in the study (83%). The mean age was 60 +/- 15 years. Seventeen of 20 females were postmenopausal. Twelve patients had history of fractures. Only four patients were on treatment with bisphosphonate. All measured bone metabolites were in normal ranges, but U-calcium was in the lower ranges. According to DEXA, eight patients had osteopenia (T-value = -1.0 - -2.5) and three osteoporosis (T-value <---2.5), while six patients had BMD more than one standard deviation below the mean of age matched controls., Conclusion: Although the majority of patients with SSc have normal bone turnover and BMD, every fourth patient may have low BMD. No single pathogenic factor was observed, however, several individuals are in calcium saving stages reflected in low urinary calcium excretion. This may be result of defects in intestinal absorption of calcium due to gastrointestinal involvement of the disease. This study does not give opportunity to evaluate effects of treatment on BMD in this group of patients. Thus, individual evaluation concerning osteoporosis is recommended in patients with SSc.

Published
2007

37. [Prevalence of secondary hyperparathyroidism (SHPT) and causal factors in adult population in Reykjavík area].

Author

Karlsson SL, Indridason OS, Franzson L, and Sigurdsson G

Subjects
Adult, Aged, Aged, 80 and over, Body Composition, Calcium, Dietary administration & dosage, Cystatin C, Cystatins blood, Female, Humans, Hyperparathyroidism, Secondary blood, Hyperparathyroidism, Secondary diagnosis, Iceland epidemiology, Linear Models, Male, Middle Aged, Multivariate Analysis, Parathyroid Hormone blood, Prevalence, Risk Factors, Smoking adverse effects, Hyperparathyroidism, Secondary epidemiology, Hyperparathyroidism, Secondary etiology, Parathyroid Hormone analogs & derivatives, Vitamin D Deficiency complications
Abstract

Introduction: SHPT is a consequence of decreased concentration of ionized calcium in blood, which may have many causes. The purpose of this study was to assess the prevalence and contributing factors of SHPT in an adult Icelandic population and explore the relationship between PTH and other variables which might explain age related increase in PTH. Such knowledge might be helpful in evaluating the results of PTH measurements. METHODS AND STUDY GROUP: The study group was a random sample of men and women in the Reykjavik area, 30-85 years of age. Serum PTH was measured by ECLIA (Roche Diagnostics), serum 25(OH)D by RIA (DiaSorin), and body composition by DXA. SHPT was defined as PTH >65 ng/l and ionized calcium <1.25 mmol/l. Inadequate vitamin D was defined as serum 25(OH)D 25-45 nmol/l and vitamin D deficiency <25 nmol/l, inadequate calcium intake <800 mg/day (from questionnaire) and reduced kidney function as serum cystatin-C >1.55 ng/l. The relationship between PTH and other variables was assessed by Spearman?s correlation coefficient and linear regression., Results: Of 2,310 individuals invited 1,630 attended (70%), 586 men and 1,023 women. Further 21 were excluded because of primary hyperparathyroidism. Of the total group 6.6% did have SHPT, 7.7% of the women and 4.6% of men (p<0.01 by gender). Underlying causes were identified in 90% of cases, most commonly inadequate vitamin D (73%). Other important causes were obesity, inadequate calcium intake, reduced kidney function and furosemide intake. Many individuals did have more than one possible underlying cause. The concentration of PTH was found in a multivariate linear regression to be associated with age, ionized calcium, 25(OH)D, cystatin-C, smoking, and BMI, especially fat mass. Testosterone did have a weak negative relationship with PTH in men., Conclusions: Most cases of SHPT could be explained by known causes and far the commonest was inadequate vitamin D. The prevalence of SHPT in Iceland is probably higher than described elsewhere, possibly due to less sunlight exposure. These results would suggest that a greater intake of vitamin D is needed in Iceland. The relationship of PTH with body composition, especially fat mass, sex hormones and smoking, needs further evaluation.

Published
2005

38. [The relationship between physical activity, body mass index, body composition and grip strength in an Icelandic population.].

Author

Guðmundsdóttir SL, Oskarsdóttir D, Franzson L, Indriðason OS, and Sigurðsson G

Abstract

Objective: To study physical activity among Icelandic adults and the relationship with anthropometric factors and grip strength., Material and Methods: Randomly selected participants, 30-85 years of age, answered questions regarding exercise and diet. Body composition was measured with DXA, which detects the proportions of different body tissues. Height, weight and grip strength were measured and the body mass index (kg/m(2)) was calculated. The prevalence of regular physical activity was studied for men and women in the age groups of 30-45 years, 50-65 years and 70-85 years and the relationship to body mass index, body composition and grip strength examined. The possible preventive effect of exercise on overweight and obesity was also studied., Results: Of 2310 invited, 1630 subjects (70.6%) participated. Mean participation in regular physical activity was 3-4 times a week but 19% of the women and 24% of the men did no exercise at all. In general, swimming, walking and calisthenics of various types and intensities were the most common forms of exercise and in the age group 30-45 year old 16% of the women and 8% of the men did strength training. 50.4% of women 30-45 years of age and 68.2% of 50-65 year old men were overweight or obese. Mean fat mass was highest in 70-85 year old women (38%) and men (27%). Occupational activity was not related to body mass index, body composition or grip strength. Significant negative relationship was found between frequency of exercise and fat mass. The relationship between grip strength and lean mass or exercise was non-significant. The odds ratio of being overweight or obesity was 0.5 (CI was 0.37-0.77 for women and 0.37-0.94 for men) for those who exercised five or more days per week compared to those who exercised less frequently., Conclusion: One of four Icelandic men and one of five women do not participate in regular physical activity despite of strong scientific indications of various positive health effects of exercise. More than half of adult Icelanders are overweight or obese but the risk is halved among those who exercise at least five days per week, compared to those who exercise less frequently. Sedentary lifestyle is more common amongst Icelanders than in the neighboring countries and realistic goals need to be set to increase the participation in regular physical activity.

Published
2004

39. [Vitamin-D homeostasis amongst adult Icelandic population.].

Author

Gunnarsson O, Indriðason OS, Franzson L, Halldórsdóttir E, and Sigurðsson G

Abstract

Background: The purpose of this study was to examine the effect of vitamin D intake and production in skin on vitamin D homeostasis in adult Icelanders., Methods: Participants were 30-85 years old, randomly selected from the registry of the Reykjavik area (64 degrees N) and answered a thorough questionnaire on diet and vitamin supplements. Concentrations of 25(OH)-vitamin D [25(OH)D] in peripheral blood were examined based on season during the study period February 2001-January 2003, vitamin D intake and age (age groups 30-45, 50-65, and 70-85 years old). We defined vitamin D deficiency as either [25(OH)D] <25 nmol/l or as [25(OH)D] where the inverse relationship between serum iPTH and [25(OH)D] became statistically significant., Results: Of 2310 invited, 1630 subjects participated (70,6% participation) but 21 individuals were excluded due to primary hyperparathyroidism. Mean [25(OH)D] was 46.5-/+20 nmol/l but varied by season, age and vitamin D intake, highest in June-July, 52.1-/+19.8 and lowest in February-March, 42.0-/+20.5 (p<0.001). [25(OH)D] was highest in the oldest age group, 50.8-/+19.7, but lowest in the youngest, 42.5-/+20 as was the intake 16.6-/+10 microg/day compared to 9.9-/+9 microg/day in the youngest. The correlation between vitamin D intake and [25(OH)D] was highest for the oldest group, r=0.41, p<0.001 but lowest in the youngest, r=0.24, p<0.001. [25(OH)D] was significantly higher among users of vitamin supplements (45.4-/+19.7) or fish oil (53.0-/+18.4) than among non-users (38.0-/+18.9). Vitamin D insufficiency was seen among 14.5% of those participating according to traditional definition, but 50% were below [25(OH)D] of 45 nmol/l where negative correlation between [25(OH)D] and PTH became statistically significant., Conclusions: The serum concentration of 25(OH)D at which vitamin D deficiency becomes biochemically significant is higher than traditionally thought. A daily intake of 15-20 microg/day during wintertime would be required to maintain normal homeostasis in Icelandic adults, which is considerably higher than present recommendations of 7-10 microg/day for adults. Further research is needed to define the limit for vitamin-D sufficiency.

Published
2004

40. [Assessment of age-related changes in parathyroid hormone levels by different methods.].

Author

Jóhannesson JP, Indriðason OS, Franzson L, and Sigurðsson G

Abstract

Background: Current assays measuring intact PTH may not only measure the active form, PTH(1-84), but also some large breakdown products, including PTH(7-84). A new method is believed to measure only PTH(1-84). The purpose of this study was to examine whether increases in intact PTH that accompany age, weight and worsening renal function could be related to breakdown products interfering with traditional assays., Methods: We used data from an ongoing cross-sectional study on bone health in 40-85 years old Icelanders. Over a 12 month period, 1096 subjects were invited for a DEXA scan, blood test, height and weight measurements and each subject answered a questionnaire on health and medication. For the current analysis we excluded those who were taking medications affecting bone and mineral metabolism. PTH was measured using PTH elecsys (Roche) and the new PTH cap (Scantibodies). We used kappa statistic to assess agreement with regard to levels above upper reference values for each assay and ANOVA, Pearson's and Spearman's correlation coefficients for other analysis. Women and men were analyzed separately., Results: Of 746 individuals who came for the study, after exclusion, 247 women and 209 men remained for this analysis. PTH was on the average roughly 40% lower with the new PTH cap assay. The correlation between the assays was 0.787 (P<0.001) for women and 0.69 (P<0.001) for men. Kappa statistic was 0.486 (P<0.001) for women and 0.283 (P<0.001) for men, indicating fair to good agreement. PTH elecsys increased with age (P=0.03 and P=0.01 for women and men, respectively) but not PTH cap (P=0.7 and P=0.09 for women and men, respectively). PTH elecsys was positively associated with cystatin C (P<0.05 for both genders), but the correlation between PTH cap and Cystatin C was not statistically significant. The association with body mass index was similar for the two assays (r=0.16 to 0.24, P<0.05) for both genders., Conclusions: There is a significant difference between these two PTH assays. It is likely that increases in intact PTH observed with age and worsening renal function are related to large breakdown products of PTH whereas the PTH increase seen with higher weight seems to be related to PTH(1-84) itself.

Published
2003

41. Multicenter evaluation of a new immunoassay for intact PTH measurement on the Elecsys System 2010 and 1010.

Author

Hermsen D, Franzson L, Hoffmann JP, Isaksson A, Kaufman JM, Leary E, Müller C, Nakatsuka K, Nishizawa Y, Reinauer H, Riesen W, Roth HJ, Steinmüller T, Troch T, and Bergmann P

Subjects
Adolescent, Adult, Antibodies, Monoclonal, Biotin, Female, Humans, Immunoassay instrumentation, Immunoassay methods, Male, Middle Aged, Reproducibility of Results, Sensitivity and Specificity, Streptavidin, Immunoassay standards, Parathyroid Hormone analysis
Abstract

Background and Objective: The determination of parathyroid hormone (PTH) is of great clinical relevance in the assessment of calcium metabolic disorders. Although PTH was one of the first hormones measured by immunoassays, there are still many difficulties in its determination due to the low concentration of the hormone in blood and due to the heterogeneity of PTH resulting from different circulating hormone fragments. The aim of our multicenter-study was to evaluate the technical performance and the clinical validity of a new immunoassay for intact PTH measurement on the Elecsys Systems 2010 and 1010., Methods and Results: The multicenter evaluation was performed in 11 clinical laboratories. The Elecsys PTH assay is a one step sandwich electrochemiluminescence immunoassay based upon the streptavidin-biotin technology. Two monoclonal antibodies are used in the assay providing detection of intact PTH. The imprecision study yielded within-run and between-days coefficients of variation of 3.1% - 6.6% and 3.4% - 15.6%, respectively using a three level control (PreciControl Bone, Roche Diagnostics) and human pool sera at two different concentrations (HS-low: 20 - 60 pg/ml, HS-high > 65 pg/ml). The analytical sensitivity calculated as the mean value plus 2 standard deviations of a within-run imprecision was below 2.70 pg/ml using zero calibrator matrix. Dilution linearity was observed up to 4890 pg/ml using zero calibrator matrix or human pool sera. Recoveries ranged between 85% - 115%. Serum, EDTA- and heparin plasma were evaluated for PTH measurement. Due to a better analyte stability (48h at 21 degrees C; 3d at 4 degrees C) EDTA plasma was recommended for PTH measurement. Results of the Elec sys PTH immunoassay correlated well (r = 0.926 - 0.994) with three different immunoradiometric assays (N-tact PTH SP, DiaSorin; Nichols Allegro Intact PTH, Nichols Institute Diagnostics; ELSA-PTH, CISBio International) and two different immunochemiluminometric assays (PTH-Intact-Immulite, DPC Biermann; Nichols Advantage Intact PTH, Nichols Institute Diagnostics) in technical and clinical method comparisons. The Passing/Bablok regression analysis yielded slopes of 0.692 - 1.729 and intercepts of -13.982 - +15.763 pg/ml. Deviations from slope 1.0 and intercept 0.0 were not unexpected due to differences in immunoassay standardization and probably due to the presence of different PTH fragments and a variable affinity of the used antibodies to these PTH fragments. Highly similar PTH concentration pattern of the Elecsys immunoassay and the Quick-Intraoperative Intact PTH immunoassay (Nichols Institute Diagnostics) obtained from specimens taken intraoperatively support the applicability of the Elecsys immunoassay to monitor the success of parathyroid resection. A reference range of 12.3 - 56.0 pg/ml calculated from PTH values of 43 apparently healthy individuals confirms reference limits published in the literature. The partition of collectives according to age showed, that individuals > 50 years have slightly higher PTH concentrations, independently of gender. This shift could be due to age itself or to an increased prevalence of individuals without obvious calcium metabolic disorders in this collective., Conclusion: The Elecsys PTH assay is a useful and reliable tool for determination of intact PTH. Our data support the intended use of the assay in clinical applications related to disorders of calcium metabolism.

Published
2002

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