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52. EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms

Author

Cassiman, David, primary, Kauppinen, Raili, additional, Monroy, Susana, additional, Lee, Ming‐Jen, additional, Bonkovsky, Herbert L., additional, Thapar, Manish, additional, Guillén‐Navarro, Encarna, additional, Minder, Anna‐Elisabeth, additional, Hale, Cecilia, additional, Sweetser, Marianne T., additional, and Ivanova, Aneta, additional

Published
2022
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56. Response by Kusters et al to Letter Regarding Article, “Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)”

Author

Kusters, D. Meeike, Braamskamp, Marjet J.A.M., Langslet, Gisle, McCrindle, Brian W., Cassiman, David, Francis, Gordon A., Gagne, Claude, Gaudet, Daniel, Morrison, Katherine M., Wiegman, Albert, Turner, Traci, Miller, Elinor, Raichlen, Joel, Martin, Paul D., Stein, Evan A., Kastelein, John J.P., and Hutten, Barbara A.

Published
2018
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58. Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.

Author

Stein, Penelope E., Edel, Yonatan, Mansour, Razan, Mustafa, Reem A., Sandberg, Sverre, Aarsand, Aasne K., Anderson, Karl E., Badminton, Michael, Balwani, Manisha, Bonkovsky, Herbert L., Cappellini, Maria Domenica, Cassiman, David, Deybach, Jean‐Charles, El Mikati, Ibrahim, Gill, Liz, Gouya, Laurent, Harper, Pauline, Hift, Richard, Ivanova, Aneta, and Langendonk, Janneke G.

Abstract

Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by two Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. A total of 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of nine terms and definitions. A total of 34 experts were invited to take part in the Delphi rounds. Seven of the initial nine terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all nine definitions achieved agreement. Agreement on the definitions for nine important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence‐based clinical guidelines. [ABSTRACT FROM AUTHOR]

Published
2023
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62. Uncovering monocyte transcription, functional and metabolic signatures in recovery and non-recovery ACLF patients

Author

de Azevedo, Rita Furtado Feio, primary, Korf, Hannelie, additional, Boesch, Markus, additional, Radenkovic, Silvia, additional, Wallays, Marie, additional, Smets, Lena, additional, Van Melkebeke, Lukas, additional, Ghesquière, Bart, additional, Cassiman, David, additional, Meersseman, Philippe, additional, Van Malenstein, Hannah, additional, Nevens, Frederik, additional, Laleman, Wim, additional, Verbeek, Jef, additional, and van der Merwe, Schalk, additional

Published
2022
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63. Clinical utility of non-ceruloplasmin copper determined by copper speciation for monitoring Wilson disease therapy: comparative data analysis with 24-hour urinary copper excretion from the CHELATE trial

Author

Schilsky, Michael, primary, Poujois, Aurelia, additional, Zuin, Massimo Giovanni, additional, Ott, Peter, additional, Weiss, Karl Heinz, additional, Cassiman, David, additional, Ala, Aftab, additional, Czlonkowska, Anna, additional, Dubois, Nicolas, additional, Amin, Naseem, additional, and Kamlin, C.Oma, additional

Published
2022
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64. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

van Vliet, Kimber, primary, van Ginkel, Willem G., additional, Jahja, Rianne, additional, Daly, Anne, additional, MacDonald, Anita, additional, Santra, Saikat, additional, De Laet, Corinne, additional, Goyens, Philippe J., additional, Vara, Roshni, additional, Rahman, Yusof, additional, Cassiman, David, additional, Eyskens, Francois, additional, Timmer, Corrie, additional, Mumford, Nicky, additional, Gissen, Paul, additional, Bierau, Jörgen, additional, van Hasselt, Peter M., additional, Wilcox, Gisela, additional, Morris, Andrew A. M., additional, Jameson, Elisabeth A., additional, de la Parra, Alicia, additional, Arias, Carolina, additional, Garcia, Maria I., additional, Cornejo, Veronica, additional, Bosch, Annet M., additional, Hollak, Carla E. M., additional, Rubio‐Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Hofstede, Floris C., additional, de Vries, Maaike C., additional, Janssen, Mirian C. H., additional, van der Ploeg, Ans T., additional, Langendonk, Janneke G., additional, Huijbregts, Stephan C. J., additional, and van Spronsen, Francjan J., additional

Published
2022
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68. A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge

Author

Ailliet, Scott, Vandenberghe, Rik, Schiemsky, Toon, Van Overbeke, Lode, Demaerel, Philippe, Meersseman, Wouter, Cassiman, David, Vermeersch, Pieter, Ailliet, Scott, Vandenberghe, Rik, Schiemsky, Toon, Van Overbeke, Lode, Demaerel, Philippe, Meersseman, Wouter, Cassiman, David, and Vermeersch, Pieter

Abstract

Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge. A 23-year-old woman with decreased muscle strength and hallucinations was diagnosed with ‘catatonic depression’ and admitted to a residential mental health facility. She was referred to our hospital for further investigation 3 months later. Heteroanamnesis revealed that the symptoms had been evolving progressively over several months. Magnetic resonance imaging (MRI) of the brain showed diffuse symmetrical white matter lesions in both hemispheres. Routine laboratory tests including vitamin B12 and folic acid were normal except for a slight normocytic, normochromic anaemia. Over the next 6 weeks her symptoms deteriorated, and she became unresponsive to stimuli. A new MRI scan showed progression of the white matter lesions. The neurologist requested plasma homocysteine (Hcys) which was more than 8 times the upper limit of normal. Further testing revealed increased methylmalonic acid and the patient was diagnosed with adult-onset cobalamin C deficiency. This case illustrates that Hcys and/or methylmalonic acid should be determined in patients presenting with neuropsychiatric symptoms suggestive of vitamin B12 deficiency with a normal serum vitamin B12 to rule out a late-onset cobalamin C deficiency.

Published
2022

69. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria:A comparison between two genetic disorders affecting the same metabolic pathway

Author

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., van Spronsen, Francjan J., van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Abstract

Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine–tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal–Wallis tests with post-hoc Mann–Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions “working memory”, “plan and organize” and “monitor”, ASEBA dimensions “social problems” and “attention problems”, and for the SSRS “assertiveness” scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism.

Published
2022

70. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Integrale & Alg. Kindergen Patientenzorg, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., van Spronsen, Francjan J., Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Integrale & Alg. Kindergen Patientenzorg, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Published
2022

73. Management dilemmas in pediatric nephrology: Cystinosis

Author

Besouw, Martine T. P., Van Dyck, Maria, Cassiman, David, Claes, Kathleen J., and Levtchenko, Elena N.

Subjects
Dilemma -- Research, Cystinosis -- Research -- Risk factors -- Development and progression -- Care and treatment -- Patient outcomes, Health
Abstract

Background Cystinosis is a rare, inherited autosomal recessive disease caused by the accumulation of free cystine in lysosomes. It is treated by the administration of cysteamine, which should be monitored by trough white blood cell (WBC) cystine measurements to ensure effective treatment. Case-Diagnosis/Treatment The index case had an older brother who had previously been diagnosed with cystinosis, allowing early diagnosis of the index case at the age of 5 months. Cysteamine therapy was started at the age of 3 years; however, monitoring of WBC cystine levels did not occur on a regular basis during most of his life. Growth retardation improved after correction of electrolyte disturbances, the initiation of cysteamine therapy and treatment with recombinant human growth hormone. Renal replacement therapy was started at the age of 11 years, and renal transplantation was performed at the age of 12 years. Extra-renal cystine accumulation caused multiple endocrinopathies (including adrenal insufficiency, hypothyroidism and primary hypogonadism), neurological symptoms, pancytopenia owing to splenomegaly and portal hypertension due to nodular regenerative hyperplasia, aggravated by splenic vein thrombosis and partial portal vein thrombosis. The patient died of diffuse intra-abdominal bleeding caused by severe portal hypertension. Conclusion Cysteamine treatment should be started as early as possible, and dosage should be monitored and adapted based on trough WBC cystine levels. Relevant international guideline Emma F et al. (2014) Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant 29:iv87-iv94., Author(s): Martine T. P. Besouw[sup.1] , Maria Van Dyck[sup.2] , David Cassiman[sup.3] , Kathleen J. Claes[sup.4] , Elena N. Levtchenko[sup.2] Author Affiliations: (1) Department of Pediatric Nephrology, University Hospital Ghent, [...]

Published
2015
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77. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials

Author

Cassiman, David, primary, Mistry, Pramod K., additional, Jones, Simon A., additional, Lachmann, Robin, additional, Lukina, Elena, additional, Prada, Carlos E., additional, Thurberg, Beth L., additional, Wasserstein, Melissa P., additional, Foster, Meredith C., additional, Patel, Reema M., additional, Ribes, Manuel, additional, Underhill, Lisa H., additional, and Peterschmitt, M. Judith, additional

Published
2022
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82. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Author

Ferdinandusse, Sacha, primary, McWalter, Kirsty, additional, te Brinke, Heleen, additional, IJlst, Lodewijk, additional, Mooijer, Petra M., additional, Ruiter, Jos P.N., additional, van Lint, Alida E.M., additional, Pras-Raves, Mia, additional, Wever, Eric, additional, Millan, Francisca, additional, Guillen Sacoto, Maria J., additional, Begtrup, Amber, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Ladda, Roger L., additional, Sell, Susan L., additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Tian, Cuixia, additional, Ulm, Elizabeth, additional, Perlman, Seth, additional, Drack, Arlene V., additional, Chong, Karen, additional, Martin, Nicole, additional, Brault, Jennifer, additional, Brokamp, Elly, additional, Toro, Camilo, additional, Gahl, William A., additional, Macnamara, Ellen F., additional, Wolfe, Lynne, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Goldstein, David B., additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C. Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Fresard, Laure, additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Bican, Anna, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, Waisfisz, Quinten, additional, Zwijnenburg, Petra J.G., additional, Ziegler, Alban, additional, Barth, Magalie, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Gaebler-Spira, Deborah, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C., additional, van Kampen, Antoine H.C., additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Cassiman, David, additional, and Vaz, Frédéric M., additional

Published
2021
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84. Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

Author

Ligezka, Anna N., primary, Radenkovic, Silvia, additional, Saraswat, Mayank, additional, Garapati, Kishore, additional, Ranatunga, Wasantha, additional, Krzysciak, Wirginia, additional, Yanaihara, Hitoshi, additional, Preston, Graeme, additional, Brucker, William, additional, McGovern, Renee M., additional, Reid, Joel M., additional, Cassiman, David, additional, Muthusamy, Karthik, additional, Johnsen, Christin, additional, Mercimek‐Andrews, Saadet, additional, Larson, Austin, additional, Lam, Christina, additional, Edmondson, Andrew C., additional, Ghesquière, Bart, additional, Witters, Peter, additional, Raymond, Kimiyo, additional, Oglesbee, Devin, additional, Pandey, Akhilesh, additional, Perlstein, Ethan O., additional, Kozicz, Tamas, additional, and Morava, Eva, additional

Published
2021
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85. Genotype-Phenotype Correlations in PMM2-CDG

Author

Vaes, Laurien, primary, Rymen, Daisy, additional, Cassiman, David, additional, Ligezka, Anna, additional, Vanhoutvin, Nele, additional, Quelhas, Dulce, additional, Morava, Eva, additional, and Witters, Peter, additional

Published
2021
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90. Hepatobiliary malignancies in Wilson disease

Author

Pfeiffenberger, Jan, Mogler, Carolin, Gotthardt, Daniel N., Schulze-Bergkamen, Henning, Litwin, Thomasz, Reuner, Ulrike, Hefter, Harald, Huster, Dominik, Schemmer, Peter, Członkowska, Anna, Schirmacher, Peter, Stremmel, Wolfgang, Cassiman, David, and Weiss, Karl Heinz

Published
2015
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91. Roux-en-y gastric bypass attenuates hepatic mitochondrial dysfunction in mice with non-alcoholic steatohepatitis

Author

Verbeek, Jef, Lannoo, Matthias, Pirinen, Eija, Ryu, Dongryeol, Spincemaille, Pieter, Vander Elst, Ingrid, Windmolders, Petra, Thevissen, Karin, Cammue, Bruno P A, van Pelt, Jos, Fransis, Sabine, Van Eyken, Peter, Ceuterick-De Groote, Chantal, Van Veldhoven, Paul P, Bedossa, Pierre, Nevens, Frederik, Auwerx, Johan, and Cassiman, David

Published
2015
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94. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

Author

Schaballie, Heidi, Renard, Marleen, Vermylen, Christiane, Scheers, Isabelle, Revencu, Nicole, Regal, Luc, Cassiman, David, Sevenants, Lieve, Hoffman, Ilse, Corveleyn, Anniek, Bordon, Victoria, Haerynck, Filomeen, Allegaert, Karel, De Boeck, Kris, Roskams, Tania, Boeckx, Nancy, Bossuyt, Xavier, and Meyts, Isabelle

Published
2013
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95. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Author

Brunham, Liam R., primary, Kang, Martin H., additional, Van Karnebeek, Clara, additional, Sadananda, Singh N., additional, Collins, Jennifer A., additional, Zhang, Lin-Hua, additional, Sayson, Bryan, additional, Miao, Fudan, additional, Stockler, Sylvia, additional, Frohlich, Jiri, additional, Cassiman, David, additional, Rabkin, Simon W., additional, and Hayden, Michael R., additional

Published
2014
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96. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

Author

Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne A., Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo, Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M., Clinical chemistry, Human genetics, ACS - Atherosclerosis & ischemic syndromes, and Amsterdam Reproduction & Development (AR&D)

Abstract

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected.

Published
2021

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