133 results on '"Lichter-Konecki, Uta"'
Search Results
2. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
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Christ, Shawn E., Arnold, Georgianne, Lichter-Konecki, Uta, Berry, Gerard T., Grange, Dorothy K., Harding, Cary O., Jurecki, Elaina, Levy, Harvey, Longo, Nicola, Morotti, Hadley, Sacharow, Stephanie, Thomas, Janet, and White, Desiree A.
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- 2024
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3. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders
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Murali, Chaya N., Barber, John R., McCarter, Robert, Zhang, Anqing, Gallant, Natalie, Simpson, Kara, Dorrani, Naghmeh, Wilkening, Greta N., Hays, Ron D., Lichter-Konecki, Uta, Burrage, Lindsay C., and Nagamani, Sandesh C.S.
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- 2023
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4. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
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Wortmann, Saskia B., Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G., Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C., Lorsbach, Robert, Dale, Russell C., Gersting, Søren, Prada, Carlos E., Christodoulou, John, Wolf, Nicole I., Venselaar, Hanka, Mayr, Johannes A., and Wevers, Ron A.
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- 2021
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5. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy
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Raina, Rupesh, Bedoyan, Jirair K., Lichter-Konecki, Uta, Jouvet, Philippe, Picca, Stefano, Mew, Nicholas Ah, Machado, Marcel C., Chakraborty, Ronith, Vemuganti, Meghana, Grewal, Manpreet K., Bunchman, Timothy, Sethi, Sidharth Kumar, Krishnappa, Vinod, McCulloch, Mignon, Alhasan, Khalid, Bagga, Arvind, Basu, Rajit K., Schaefer, Franz, Filler, Guido, and Warady, Bradley A.
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- 2020
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6. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
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Nagamani, Sandesh CS, Diaz, George A, Rhead, William, Berry, Susan A, Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, J Lawrence, Wong, Derek, Coakley, Dion F, Scharschmidt, Bruce F, Dickinson, Klara, Marino, Miguel, Lee, Brendan H, and Mokhtarani, Masoud
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Chronic Pain ,Pain Research ,Clinical Research ,Neurosciences ,Clinical Trials and Supportive Activities ,Evaluation of treatments and therapeutic interventions ,6.1 Pharmaceuticals ,Adolescent ,Adult ,Aged ,Ammonia ,Antineoplastic Agents ,Child ,Child ,Preschool ,Female ,Glycerol ,Humans ,Infant ,Male ,Middle Aged ,Phenylbutyrates ,Quality of Life ,Self Report ,Surveys and Questionnaires ,Urea Cycle Disorders ,Inborn ,Young Adult ,Treatment-related symptoms ,Glycerol phenylbutyrate ,Sodium phenylbutyrate ,Patient-reported outcomes ,Health-related quality of life ,Clinical Sciences ,Genetics & Heredity - Abstract
BackgroundHealth care outcomes have been increasingly assessed through health-related quality of life (HRQoL) measures. While the introduction of nitrogen-scavenging medications has improved survival in patients with urea cycle disorders (UCDs), they are often associated with side effects that may affect patient compliance and outcomes.MethodsSymptoms commonly associated with nitrogen-scavenging medications were evaluated in 100 adult and pediatric participants using a non-validated UCD-specific questionnaire. Patients or their caregivers responded to a pre-defined list of symptoms known to be associated with the use of these medications. Responses were collected at baseline (while patients were receiving sodium phenylbutyrate [NaPBA]) and during treatment with glycerol phenylbutyrate (GPB).ResultsAfter 3 months of GPB dosing, there were significant reductions in the proportion of patients with treatment-associated symptoms (69% vs. 46%; p
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- 2015
7. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
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Lee, Brendan, Diaz, George A, Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A, Le Mons, Cindy, Bartley, James A, Longo, Nicola, Nagamani, Sandesh C, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J Lawrence, Schulze, Andreas, Vockley, Gerard, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A, Marino, Miguel, Coakley, Dion F, Mokhtarani, Masoud, and Scharschmidt, Bruce F
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Clinical Research ,Adolescent ,Adult ,Ammonia ,Child ,Child ,Preschool ,Female ,Glutamine ,Humans ,Hyperammonemia ,Infant ,Male ,Middle Aged ,Predictive Value of Tests ,Urea Cycle Disorders ,Inborn ,Young Adult ,glycerol phenylbutyrate ,hyperammonemia ,RAVICTI ,sodium phenylbutyrate ,UCD Consortium ,Genetics ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeThe aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders.MethodsThe relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were analyzed in >100 patients with urea cycle disorders.ResultsFasting ammonia correlated strongly with daily ammonia exposure (r = 0.764; P < 0.001). For patients with fasting ammonia concentrations 200% (P < 0.0001), respectively. The relationship between ammonia and hyperammonemic crisis risk seemed to be independent of treatment, age, urea cycle disorder subtype, dietary protein intake, or blood urea nitrogen. Fasting glutamine correlated weakly with daily ammonia exposure assessed as 24-hour area under the curve and was not a significant predictor of hyperammonemic crisis.ConclusionFasting ammonia correlates strongly and positively with daily ammonia exposure and with the risk and rate of hyperammonemic crises, suggesting that patients with urea cycle disorder may benefit from tight ammonia control.
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- 2015
8. Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency.
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Sriram, Swetha, Shahid, Nabiha, Mysliwiec D, Diana, Lichter-Konecki, Uta, Yatsenko, Svetlana A., and Garibaldi, Luigi R.
- Abstract
To report an unusual case of MCT8 deficiency (Allan–Herndon–Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities. A girl with profound developmental delay, epilepsy, primary amenorrhea, elevated T3, low T4 and free T4 levels was diagnosed with MCT8-deficiency at age 17 years, during evaluation for primary ovarian insufficiency (POI). Cytogenetic analysis demonstrated balanced t(X;16)(q13.2;q12.1) translocation with a breakpoint disrupting SLC16A2. X-chromosome inactivation studies revealed a skewed inactivation of the normal X chromosome. MCT8-deficiency can manifest clinically and phenotypically in women with SLC16A2 aberrations when nonrandom X inactivation occurs, while lack of X chromosome integrity due to translocation can cause POI. [ABSTRACT FROM AUTHOR]
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- 2024
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9. Phenylketonuria: Current Treatments and Future Developments
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Lichter-Konecki, Uta and Vockley, Jerry
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- 2019
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10. P018: Phenylketonuria families and researchers evaluating evidence (PHEFREE), the NIH Rare Disease Consortium for PKU
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Arnold, Georgianne, Christ, Shawn, Lichter-Konecki, Uta, Grange, Dorothy, Thomas, Janet, Berry, Gerard, Longo, Nicola, White, Desiree, and Harding, Cary
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- 2024
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11. P007: PP4 criteria specifications for proximal urea cycle disorders*
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Simpson, Kara, Mew, Nicholas Ah, Caldovic, Ljubica, Feigenbaum, Annette, Fernandez, Raquel, Groopman, Emily, Gropman, Andrea, Kudalkar, Emily, Lichter-Konecki, Uta, Kyriss, McKenna, Spector, Elaine, Weaver, Meredith, Warrier, Manya, Zastrow, Diane, and Thomas-Wilson, Amanda
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- 2024
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12. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
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Wortmann, Saskia B., Ziętkiewicz, Szymon, Guerrero-Castillo, Sergio, Feichtinger, René G., Wagner, Matias, Russell, Jacqui, Ellaway, Carolyn, Mróz, Dagmara, Wyszkowski, Hubert, Weis, Denisa, Hannibal, Iris, von Stülpnagel, Celina, Cabrera-Orefice, Alfredo, Lichter-Konecki, Uta, Gaesser, Jenna, Windreich, Randy, Myers, Kasiani C., Lorsbach, Robert, Dale, Russell C., Gersting, Søren, Prada, Carlos E., Christodoulou, John, Wolf, Nicole I., Venselaar, Hanka, Mayr, Johannes A., and Wevers, Ron A.
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- 2021
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13. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
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De Castro, Mauricio, Zand, Dina J., Lichter-Konecki, Uta, Kirmse, Brian, Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor
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- 2015
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14. CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES
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Simpson, Kara, primary, Mew, Nicholas Ah., additional, Caldovic, Ljubica, additional, Craigen, William, additional, Feigenbaum, Annette, additional, Fernandez, Raquel, additional, Groopman, Emily, additional, Gropman, Andrea, additional, Kudalker, Emily, additional, Kyriss, McKenna, additional, Lichter-Konecki, Uta, additional, Nagamani, Sandesh, additional, Spector, Elaine, additional, Thomas-Wilson, Amanda, additional, Warrier, Manya, additional, Weaver, Meredith, additional, and Zastrow, Diane, additional
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- 2023
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15. New in Newborn Screening
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Ortiz, Damara and Lichter-Konecki, Uta
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- 2017
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16. Contributors
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Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional
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- 2017
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17. Inborn Errors of Urea Synthesis
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Nagamani, Sandesh C.S., primary and Lichter-Konecki, Uta, additional
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- 2017
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18. Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism
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Ames, Elizabeth G., primary, Powell, Corey, additional, Engen, Rachel M., additional, Weaver, Donald J., additional, Mansuri, Asif, additional, Rheault, Michelle N., additional, Sanderson, Keia, additional, Lichter-Konecki, Uta, additional, Daga, Ankana, additional, Burrage, Lindsay C., additional, Ahmad, Ayesha, additional, Wenderfer, Scott E., additional, and Luckritz, Kera E., additional
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- 2022
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19. Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
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Priestley, Jessica R. C., primary, Adang, Laura A., additional, Drewes Williams, Sarah, additional, Lichter-Konecki, Uta, additional, Menello, Caitlin, additional, Engelhardt, Nicole M., additional, DiPerna, James C., additional, DiBoscio, Brenda, additional, Ahrens-Nicklas, Rebecca C., additional, Edmondson, Andrew C., additional, Reynoso Santos, Francis Jeshira, additional, and Ficicioglu, Can, additional
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- 2022
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20. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency
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Burrage, Lindsay C., Sun, Qin, Elsea, Sarah H., Jiang, Ming-Ming, Nagamani, Sandesh C.S., Frankel, Arthur E., Stone, Everett, Alters, Susan E., Johnson, Dale E., Rowlinson, Scott W., Georgiou, George, Lee, Brendan H., Batshaw, Mark L., Tuchman, Mendel, Summar, Marshall L., Mew, Nicholas Ah, Baumgartner, Matthias R., Berry, Susan A., Cederbaum, Stephen, Coughlin, Curtis, III, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Hoffmann, Georg, Kerr, Douglas S., Lee, Brendan, Lichter-Konecki, Uta, McCandless, Shawn E., Lawrence Merritt, J., II, Nagamani, Sandesh CS, Schulze, Andreas, Seashore, Margretta R., Stricker, Tamar, Waisbren, Susan, Weisfeld-Adams, James, Wong, Derek, and Yudkoff, Mark
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- 2015
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21. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
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Lopes Abath Neto, Osorio, primary, Medne, Livija, additional, Donkervoort, Sandra, additional, Rodríguez-García, Maria Elena, additional, Bolduc, Véronique, additional, Hu, Ying, additional, Guadagnin, Eleonora, additional, Foley, A Reghan, additional, Brandsema, John F, additional, Glanzman, Allan M, additional, Tennekoon, Gihan I, additional, Santi, Mariarita, additional, Berger, Justin H, additional, Megeney, Lynn A, additional, Komaki, Hirofumi, additional, Inoue, Michio, additional, Cotrina-Vinagre, Francisco Javier, additional, Hernández-Lain, Aurelio, additional, Martin-Hernández, Elena, additional, Williams, Linford, additional, Borell, Sabine, additional, Schorling, David, additional, Lin, Kimberly, additional, Kolokotronis, Konstantinos, additional, Lichter-Konecki, Uta, additional, Kirschner, Janbernd, additional, Nishino, Ichizo, additional, Banwell, Brenda, additional, Martínez-Azorín, Francisco, additional, Burgon, Patrick G, additional, and Bönnemann, Carsten G, additional
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- 2021
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22. Menkes disease in affected females: The clinical disease spectrum
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Smpokou, Patroula, Samanta, Monisha, Berry, Gerard T., Hecht, Leah, Engle, Elizabeth C., and Lichter-Konecki, Uta
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- 2015
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23. Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)
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Lichter-Konecki, Uta, primary
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- 2014
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24. Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel’s experience
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Groopman, Emily, primary, Weaver, Meredith, additional, Zastrow, Diane, additional, Enns, Gregory, additional, Feigenbaum, Annette, additional, Lichter-Konecki, Uta, additional, Lyon, Elaine, additional, Pasquali, Marzia, additional, Caldovic, Ljuba, additional, Ross, Justyne, additional, and Craigen, William, additional
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- 2021
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25. Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series
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Baker, Peter, primary, Ables, Holly, additional, Bedoyan, Jirair, additional, Feldman, Gerald, additional, Keegan, Catherine, additional, Lichter-Konecki, Uta, additional, Longo, Nicola, additional, McDonald, Marie, additional, Merideth, Melissa, additional, Venditti, Charles, additional, Merritt, Lawrence, additional, Shinawi, Marwan, additional, Sutton, V. Reid, additional, Vernon, Hilary, additional, Wilcox, William, additional, El-Gharbawy, Areeg, additional, Koeller, David, additional, Steiner, Robert, additional, Barshop, Bruce, additional, Coughlin, Curtis, additional, Kochhar, Aaina, additional, Van Hove, Johan, additional, Thomas, Janet, additional, Larson, Austin, additional, and McCandless, Shawn, additional
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- 2021
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26. The Genetic Landscape and Epidemiology of Phenylketonuria
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Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A. F., Fajkusova, Lena, Feillet, Francois, Bonfim-Freitas, Pedro E., Gizewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey, I, Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander, V, Porta, Francesco, Rohrbach, Marianne, Scholl-Burgi, Sabine, Specola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thony, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad, Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A. F., Fajkusova, Lena, Feillet, Francois, Bonfim-Freitas, Pedro E., Gizewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey, I, Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander, V, Porta, Francesco, Rohrbach, Marianne, Scholl-Burgi, Sabine, Specola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thony, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., and Blau, Nenad
- Abstract
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]-1:125,000 [Japan]). Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences in disease severity in 51 countries from 17 world regions, with the global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A gt G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C gt T (p.Arg408Trp) (22.2%), c.1066-11G gt A (IVS10-11G gt A) (6.4%), and c.782G gt A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066-11G gt A];[1066-11G gt A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome.
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- 2020
27. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
- Author
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Longo, Nicola, primary, Diaz, George A., additional, Lichter-Konecki, Uta, additional, Schulze, Andreas, additional, Inbar-Feigenberg, Michal, additional, Conway, Robert L., additional, Bannick, Allison A., additional, McCandless, Shawn E., additional, Zori, Roberto, additional, Hainline, Bryan, additional, Ah Mew, Nicholas, additional, Canavan, Colleen, additional, Vescio, Thomas, additional, Kok, Teresa, additional, Porter, Marty H., additional, and Berry, Susan A., additional
- Published
- 2021
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28. A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
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Koppes, Erik A., primary, Redel, Bethany K., additional, Johnson, Marie A., additional, Skvorak, Kristen J., additional, Ghaloul-Gonzalez, Lina, additional, Yates, Megan E., additional, Lewis, Dale W., additional, Gollin, Susanne M., additional, Wu, Yijen L., additional, Christ, Shawn E., additional, Yerle, Martine, additional, Leshinski, Angela, additional, Spate, Lee D., additional, Benne, Joshua A., additional, Murphy, Stephanie L., additional, Samuel, Melissa S., additional, Walters, Eric M., additional, Hansen, Sarah A., additional, Wells, Kevin D., additional, Lichter-Konecki, Uta, additional, Wagner, Robert A., additional, Newsome, Joseph T., additional, Dobrowolski, Steven F., additional, Vockley, Jerry, additional, Prather, Randall S., additional, and Nicholls, Robert D., additional
- Published
- 2020
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29. The Genetic Landscape and Epidemiology of Phenylketonuria
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Hillert, Alicia, primary, Anikster, Yair, additional, Belanger-Quintana, Amaya, additional, Burlina, Alberto, additional, Burton, Barbara K., additional, Carducci, Carla, additional, Chiesa, Ana E., additional, Christodoulou, John, additional, Đorđević, Maja, additional, Desviat, Lourdes R., additional, Eliyahu, Aviva, additional, Evers, Roeland A.F., additional, Fajkusova, Lena, additional, Feillet, François, additional, Bonfim-Freitas, Pedro E., additional, Giżewska, Maria, additional, Gundorova, Polina, additional, Karall, Daniela, additional, Kneller, Katya, additional, Kutsev, Sergey I., additional, Leuzzi, Vincenzo, additional, Levy, Harvey L., additional, Lichter-Konecki, Uta, additional, Muntau, Ania C., additional, Namour, Fares, additional, Oltarzewski, Mariusz, additional, Paras, Andrea, additional, Perez, Belen, additional, Polak, Emil, additional, Polyakov, Alexander V., additional, Porta, Francesco, additional, Rohrbach, Marianne, additional, Scholl-Bürgi, Sabine, additional, Spécola, Norma, additional, Stojiljković, Maja, additional, Shen, Nan, additional, Santana-da Silva, Luiz C., additional, Skouma, Anastasia, additional, van Spronsen, Francjan, additional, Stoppioni, Vera, additional, Thöny, Beat, additional, Trefz, Friedrich K., additional, Vockley, Jerry, additional, Yu, Youngguo, additional, Zschocke, Johannes, additional, Hoffmann, Georg F., additional, Garbade, Sven F., additional, and Blau, Nenad, additional
- Published
- 2020
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30. Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
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Dobrowolski, Steven F., primary, Alodaib, Ahmad, additional, Karunanidhi, Anuradha, additional, Basu, Shrabini, additional, Holecko, Meghan, additional, Lichter-Konecki, Uta, additional, Pappan, Kirk L., additional, and Vockley, Jerry, additional
- Published
- 2020
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31. Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events
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Buerger, Corinna, Garbade, Sven F, Dietrich Alber, Fabienne, Waisbren, Susan E, McCarter, Robert, Kölker, Stefan, Burgard, Peter, Ah Mew, Nicholas, Batshaw, Mark L, Baumgartner, Matthias R, Berry, Susan A, Coughlin, Curtis, Cederbaum, Stephen, Diaz, George A, Feigenbaum, Annette, Gallagher, Renata C, Harding, Cary O, Hoffmann, Georg, Kerr, Douglas S, Lee, Brendan, Le Mons, Cynthia, Lichter‐Konecki, Uta, McCandless, Shawn E, Lawrence Merritt, J, Nagamani, Sandesh C S, Schulze, Andreas, Seashore, Margretta R, Stricker, Tamar, Summar, Marshall L, Tuchman, Mendel, et al, University of Zurich, and Burgard, Peter
- Subjects
2716 Genetics (clinical) ,ornithine transcarbamylase deficiency ,1311 Genetics ,10036 Medical Clinic ,610 Medicine & health ,cognitive outcome ,urea cycle disorders - Published
- 2019
32. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases
- Author
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Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leao, Vara, Roshni, Mew, Nicholas Ah., Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Koelker, Stefan, Burgard, Peter, Bloxam, Sondra, Brody, Linnea, Caspi, Liora, Elsbecker, Sara, Fierro, Luca, Lynn, Audrey, Mullins, Mary, Mutze, Ulrike, Papaleo, Cassandra, Payan, Irma, Simpson, Kara, Singer, Rebecca, Wallis, Kimberly, Alber, Fabienne Dietrich, Babikian, Talin, Bender, Heidi, Boys, Christopher, Breiger, David, Buerger, Corinna, Caudle, Susan E., Nguyen-Driver, Mina, Kerr, Elizabeth, Mamak, Eva, Sanz, Jacqueline H., Tangen, Rachel, Wilkening, Greta, Cederbaum, Stephen, Feigenbaum, Annette, Kerr, Douglas S., Lichter-Konecki, Uta, Seashore, Margretta R., Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Merritt, J. Lawrence, II, Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld-Adams, James, Wong, Derek, Yudkoff, Marc, Arnoux, Jean-Baptiste, Baric, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, Cortes-Saladefont, Elisenda, Couce, Maria L., Eyskens, François, de Laet, Corine, de Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grunewald, Stephanie, Haberle, Johannes, Hwu, Wuh-Liang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Muehlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, Sykut-Cegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri, Pediatric surgery, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Reproduction & Development (AR&D), Pediatrics, Paediatric Metabolic Diseases, University of Zurich, Burgard, Peter, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCDC, and E-IMD Consortium
- Subjects
0301 basic medicine ,Male ,Data Analysis ,Urea Cycle Disorders ,Delayed Diagnosis ,medicine.medical_treatment ,030105 genetics & heredity ,Liver transplantation ,Neurodegenerative ,Cohort Studies ,0302 clinical medicine ,Urea ,Genetics(clinical) ,Urea Cycle Disorders, Inborn ,Genetics (clinical) ,Ornithine transcarbamylase deficiency ,Pediatric ,Genetics & Heredity ,screening and diagnosis ,diagnostic methods ,international registry and database ,Europe ,Detection ,Urea cycle Disorders ,Urea cycle ,Female ,medicine.symptom ,Cohort study ,4.2 Evaluation of markers and technologies ,medicine.medical_specialty ,2716 Genetics (clinical) ,Clinical Sciences ,Late onset ,610 Medicine & health ,Asymptomatic ,Article ,03 medical and health sciences ,Rare Diseases ,Neonatal Screening ,1311 Genetics ,Clinical Research ,Internal medicine ,medicine ,Genetics ,Humans ,Newborn screening ,business.industry ,Infant, Newborn ,Infant ,Additional individual contributors of the UCDC and the E-IMD consortium ,medicine.disease ,Newborn ,Ornithine Carbamoyltransferase Deficiency Disease ,Clinical research ,Inborn ,Good Health and Well Being ,10036 Medical Clinic ,North America ,Human medicine ,business ,Digestive Diseases ,030217 neurology & neurosurgery - Abstract
ollaborators: Bloxam S, Brody L, Caspi L, Elsbecker S, Fierro L, Lynn A, Mullins M, Mütze U, Papaleo C, Payan I, Seminara J, Simpson K, Singer R, Wallis K, Alber FD, Babikian T, Bender H, Boys C, Breiger D, Buerger C, Caudle SE, NguyenDriver M, Kerr E, Mamak E, Sanz JH, Tangen R, Wilkening G, Cederbaum S, Feigenbaum A, Kerr DS, LichterKonecki U, Seashore MR, Berry SA, Burrage L, Coughlin C, Diaz GA, Gallagher RC, Gropman A, Harding CO, Lee B, Le Mons C, Lawrence Merritt J 2nd, Nagamani SCS, Schulze A, Stricker T, Tuchman M, Waisbren S, WeisfeldAdams J, Wong D, Yudkoff M, Arnoux J, Bari Cacute I, Bosch AM, Chabrol B, Chakrapani A, CortèsSaladefont E, Couce ML, Eyskens F, de Laet C, de Meirleir L, Freisinger P, Gleich F, Grünewald S, Häberle J, Hwu W, Jalan A, Karall D, Lindner M, Lund AM, Martinelli D, Murphy E, Mühlhausen C, Olivieri G, Ottolenghi C, Rodrigues E, Rubert L, Sarajlija A, Schiff M, Sokal E, SykutCegielska J, Walter JH, Williams M, Zeman J. BACKGROUND: To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. AIMS: Description of the NA and EU patient samples and investigation of the prospects of combined and comparative analyses for individuals with UCDs. METHODS: Retrieval and comparison of the data from 1095 individuals (NA: 620, EU: 475) from two electronic databases. RESULTS: The proportion of females with ornithine transcarbamylase deficiency (fOTC-D), particularly those being asymptomatic (asfOTC-D), was higher in the NA than in the EU sample. Exclusion of asfOTC-D resulted in similar distributions in both samples. The mean age at first symptoms was higher in NA than in EU patients with late onset (LO), but similar for those with early (≤ 28 days) onset (EO) of symptoms. Also, the mean age at diagnosis and diagnostic delay for EO and LO patients were similar in the NA and EU cohorts. In most patients (including fOTC-D), diagnosis was made after the onset of symptoms (59.9%) or by high-risk family screening (24.7%), and less often by newborn screening (8.9%) and prenatal testing (3.7%). Analysis of clinical phenotypes revealed that EO patients presented with more symptoms than LO individuals, but that numbers of symptoms correlated with plasma ammonium concentrations in EO patients only. Liver transplantation was reported for 90 NA and 25 EU patients. CONCLUSIONS: Combined analysis of databases drawn from distinct populations opens the possibility to increase sample sizes for natural history questions, while comparative analysis utilizing differences in approach to treatment can evaluate therapeutic options and enhance long-term outcome studies.
- Published
- 2019
33. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
- Author
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Diaz, George A., primary, Schulze, Andreas, additional, Longo, Nicola, additional, Rhead, William, additional, Feigenbaum, Annette, additional, Wong, Derek, additional, Merritt, J. Lawrence, additional, Berquist, William, additional, Gallagher, Renata C., additional, Bartholomew, Dennis, additional, McCandless, Shawn E., additional, Smith, Wendy E., additional, Harding, Cary O., additional, Zori, Roberto, additional, Lichter-Konecki, Uta, additional, Vockley, Jerry, additional, Canavan, Colleen, additional, Vescio, Thomas, additional, Holt, Robert J., additional, and Berry, Susan A., additional
- Published
- 2019
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- View/download PDF
34. Can pathology help in functional interpretation of genetic variants – A case report of Novel variants in NARS2 gene with mitochondrial dysfunction presenting as early infantile epileptic encephalopathy with cardiac and skeletal muscle involvement (P4.6-063)
- Author
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HEREDIA, WILSON, primary, Lichter-Konecki, Uta, additional, Walsh, Leslie, additional, Ozolek, John, additional, Murdoch, Geoffrey, additional, and Rajan, Deepa, additional
- Published
- 2019
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- View/download PDF
35. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
- Author
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Ah Mew, Nicholas, primary, Cnaan, Avital, additional, McCarter, Robert, additional, Choi, Henry, additional, Glass, Penny, additional, Rice, Katie, additional, Scavo, Louis, additional, Gillespie, Catherine W., additional, Diaz, George A., additional, Berry, Gerard T., additional, Wong, Derek, additional, Konczal, Laura, additional, McCandless, Shawn E., additional, Coughlin II, Curtis R., additional, Weisfeld-Adams, James D., additional, Ficicioglu, Can, additional, Yudkoff, Mark, additional, Enns, Gregory M., additional, Lichter-Konecki, Uta, additional, Gallagher, Renata, additional, and Tuchman, Mendel, additional
- Published
- 2018
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- View/download PDF
36. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders
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Berry, Susan A., primary, Vockley, Jerry, additional, Vinks, Alexander A., additional, Dong, Min, additional, Diaz, George A., additional, McCandless, Shawn E., additional, Smith, Wendy E., additional, Harding, Cary O., additional, Zori, Roberto, additional, Ficicioglu, Can, additional, Lichter-Konecki, Uta, additional, Perdok, Renee, additional, Robinson, Beth, additional, Holt, Robert J., additional, and Longo, Nicola, additional
- Published
- 2018
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- View/download PDF
37. 38 - Inborn Errors of Urea Synthesis
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Nagamani, Sandesh C.S. and Lichter-Konecki, Uta
- Published
- 2017
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38. BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
- Author
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Lee, Brendan, Diaz, George A, Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A, Le Mons, Cindy, Bartley, James A, Longo, Nicola, Nagamani, Sandesh C, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J Lawrence, Schulze, Andreas, Vockley, Jerry, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A, Marino, Miguel, Coakley, Dion F, Mokhtarani, Masoud, UCD Consortium, Scharschmidt, Bruce F, and University of Zurich
- Subjects
Male ,Urea Cycle Disorders ,Glutamine ,sodium phenylbutyrate ,chemistry.chemical_compound ,0302 clinical medicine ,Glycerol phenylbutyrate ,Child ,Blood urea nitrogen ,Urea Cycle Disorders, Inborn ,Genetics (clinical) ,Genetics & Heredity ,0303 health sciences ,Sodium phenylbutyrate ,Hyperammonemia ,Middle Aged ,Biochemistry ,Urea cycle ,Child, Preschool ,Female ,medicine.drug ,Adult ,medicine.medical_specialty ,2716 Genetics (clinical) ,Urea cycle disorder ,Adolescent ,hyperammonemia ,Clinical Sciences ,610 Medicine & health ,Article ,03 medical and health sciences ,Ammonia ,Young Adult ,Clinical Research ,Predictive Value of Tests ,Internal medicine ,medicine ,Genetics ,Humans ,Preschool ,030304 developmental biology ,business.industry ,Infant ,medicine.disease ,glycerol phenylbutyrate ,Endocrinology ,Inborn ,chemistry ,10036 Medical Clinic ,UCD Consortium ,RAVICTI ,business ,030217 neurology & neurosurgery - Abstract
PurposeThe aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders.MethodsThe relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were analyzed in >100 patients with urea cycle disorders.ResultsFasting ammonia correlated strongly with daily ammonia exposure (r = 0.764; P < 0.001). For patients with fasting ammonia concentrations 200% (P < 0.0001), respectively. The relationship between ammonia and hyperammonemic crisis risk seemed to be independent of treatment, age, urea cycle disorder subtype, dietary protein intake, or blood urea nitrogen. Fasting glutamine correlated weakly with daily ammonia exposure assessed as 24-hour area under the curve and was not a significant predictor of hyperammonemic crisis.ConclusionFasting ammonia correlates strongly and positively with daily ammonia exposure and with the risk and rate of hyperammonemic crises, suggesting that patients with urea cycle disorder may benefit from tight ammonia control.
- Published
- 2014
39. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
- Author
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Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta, Gahl, William A., Unwin, Robert J., Warth, Richard, Kleta, Robert, Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta, Gahl, William A., Unwin, Robert J., Warth, Richard, and Kleta, Robert
- Abstract
Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure. Methods We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage analysis, sequencing, and expression studies in kidney biopsy specimens and renal cells along with knockout mouse studies and evaluations of mitochondrial morphology and function. Structural studies examined the effects of recognized mutations. Results The renal disease in these patients resulted from monoallelic mutations in the gene encoding glycine amidinotransferase (GATM), a renal proximal tubular enzyme in the creatine biosynthetic pathway that is otherwise associated with a recessive disorder of creatine deficiency. In silico analysis showed that the particular GATM mutations, identified in 28 members of the five families, create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells. GATMaggregates-containing mitochondria were elongated and associated with increased ROS production, activation of the NLRP3 inflammasome, enhanced expression of the profibrotic cytokine IL-18, and increased cell death. Conclusions In this novel genetic disorder, fully penetrant heterozygous missense mutations in GATM trigger intramitochondrial fibrillary deposition of GATM and lead to elongated and abnormal mitochondria. We speculate that this renal proximal tubular mitochondrial pathology initiates a response from the inflammasome, with subsequent development of kidney fibrosis.
- Published
- 2018
40. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
- Author
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Reichold, Markus, primary, Klootwijk, Enriko D., additional, Reinders, Joerg, additional, Otto, Edgar A., additional, Milani, Mario, additional, Broeker, Carsten, additional, Laing, Chris, additional, Wiesner, Julia, additional, Devi, Sulochana, additional, Zhou, Weibin, additional, Schmitt, Roland, additional, Tegtmeier, Ines, additional, Sterner, Christina, additional, Doellerer, Hannes, additional, Renner, Kathrin, additional, Oefner, Peter J., additional, Dettmer, Katja, additional, Simbuerger, Johann M., additional, Witzgall, Ralph, additional, Stanescu, Horia C., additional, Dumitriu, Simona, additional, Iancu, Daniela, additional, Patel, Vaksha, additional, Mozere, Monika, additional, Tekman, Mehmet, additional, Jaureguiberry, Graciana, additional, Issler, Naomi, additional, Kesselheim, Anne, additional, Walsh, Stephen B., additional, Gale, Daniel P., additional, Howie, Alexander J., additional, Martins, Joana R., additional, Hall, Andrew M., additional, Kasgharian, Michael, additional, O’Brien, Kevin, additional, Ferreira, Carlos R., additional, Atwal, Paldeep S., additional, Jain, Mahim, additional, Hammers, Alexander, additional, Charles-Edwards, Geoffrey, additional, Choe, Chi-Un, additional, Isbrandt, Dirk, additional, Cebrian-Serrano, Alberto, additional, Davies, Ben, additional, Sandford, Richard N., additional, Pugh, Christopher, additional, Konecki, David S., additional, Povey, Sue, additional, Bockenhauer, Detlef, additional, Lichter-Konecki, Uta, additional, Gahl, William A., additional, Unwin, Robert J., additional, Warth, Richard, additional, and Kleta, Robert, additional
- Published
- 2018
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- View/download PDF
41. Inborn Errors of Metabolism with Cognitive Impairment
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Sklirou, Evgenia, primary and Lichter-Konecki, Uta, additional
- Published
- 2018
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42. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years
- Author
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Berry, Susan A., primary, Longo, Nicola, additional, Diaz, George A., additional, McCandless, Shawn E., additional, Smith, Wendy E., additional, Harding, Cary O., additional, Zori, Roberto, additional, Ficicioglu, Can, additional, Lichter-Konecki, Uta, additional, Robinson, Beth, additional, and Vockley, Jerry, additional
- Published
- 2017
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43. Novel mutations in RMND1 presenting with dystonia and seizures (P4.168)
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Sanchez-Quintero, Maria J, primary, Gomez, Carlos Lopez, additional, Lichter-konecki, Uta, additional, Pisani, Laura, additional, Riviello, James, additional, Hirano, Michio, additional, and Hirano, Catarina Quinzii, additional
- Published
- 2017
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44. The Pennsylvania newborn screening experience for Pompe disease
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Henderson, Nadene D., primary, Ficicioglu, Can, additional, Ortiz, Damara, additional, Ahrens-Nicklas, Rebecca, additional, Gordon, Patricia, additional, Ieradi-Curto, Lynne, additional, Cuddapah, Sanmati, additional, El-Gharbawy, Areeg, additional, Lichter-Konecki, Uta, additional, Sebastien, Jessica, additional, Byers, Stephanie, additional, Dobrowolski, Steven, additional, Higa, Leigh Ann, additional, Vockley, Gerard, additional, and Culley, Lani, additional
- Published
- 2017
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45. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
- Author
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Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela M., Liu, Jixia, Mangels, Rachel, Dwight, Selina S., Wright, Matt W., Dobrowolski, Steven F., Eilbeck, Karen, Enns, Gregory M., Feigenbaum, Annette, Lichter‐Konecki, Uta, Lyon, Elaine, Pasquali, Marzia, Watson, Michael, and Blau, Nenad
- Abstract
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group's standards and guidelines. A PAH variant curation expert panel (VCEP) was created to facilitate this process. Following ACMG‐AMP variant interpretation guidelines, we present the development of these standards in the context of PAH variant curation and interpretation. Existing ACMG‐AMP rules were adjusted based on disease (6) or strength (5) or both (2). Disease adjustments include allele frequency thresholds, functional assay thresholds, and phenotype‐specific guidelines. Our validation of PAH‐specific variant interpretation guidelines is presented using 85 variants. The PAH VCEP interpretations were concordant with existing interpretations in ClinVar for 69 variants (81%). Development of biocurator tools and standards are also described. Using the PAH‐specific ACMG‐AMP guidelines, 714 PAH variants have been curated and will be submitted to ClinVar. We also discuss strategies and challenges in applying ACMG‐AMP guidelines to autosomal recessive metabolic disease, and the curation of variants in these genes. The ClinGen Inborn Errors of Metabolism Working Group chose phenylalanine hydroxylase (PAH) deficiency to pilot metabolic‐specific ACMG‐AMP variant interpretation guidelines. A PAH variant curation expert panel adjusted existing ACMG‐AMP rules based on disease (6) or strength (5) or both (2). Disease adjustments include allele frequency thresholds, functional assay thresholds, and phenotype‐specific guidelines. Our validation of PAH‐specific variant interpretation guidelines are presented. Using these guidelines 714 PAH variants have been curated and will be submitted to ClinVar. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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46. Defects of the urea cycle
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Lichter-Konecki, Uta, primary
- Published
- 2016
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47. Phenylketonuria (PKU): A problem solved?
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Brown, Christine S., primary and Lichter-Konecki, Uta, additional
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- 2016
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48. Mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder
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Wang, Yuexia, primary, Lichter-Konecki, Uta, additional, Anyane-Yeboa, Kwame, additional, Shaw, Jessica E., additional, Lu, Jonathan T., additional, Östlund, Cecilia, additional, Shin, Ji-Yeon, additional, Clark, Lorraine N., additional, Gundersen, Gregg G., additional, Nagy, Peter L., additional, and Worman, Howard J., additional
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- 2016
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49. What is in the can? The dilemma with dietary supplements
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D'Aco, Kristin, primary, Mooney, Robert, additional, Cusmano-Ozog, Kristina, additional, Hofherr, Sean, additional, and Lichter-Konecki, Uta, additional
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- 2014
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50. Menkes disease in affected females: The clinical disease spectrum
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Smpokou, Patroula, primary, Samanta, Monisha, additional, Berry, Gerard T., additional, Hecht, Leah, additional, Engle, Elizabeth C., additional, and Lichter-Konecki, Uta, additional
- Published
- 2014
- Full Text
- View/download PDF
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