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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants Jones, Simon A.; Valayannopoulos, Vassili; Schneider, Eugene; Eckert, Stephen; Banikazemi, Maryam; Bialer, Martin; Cederbaum, Stephen; Chan, Alicia; Dhawan, Anil; Di Rocco, Maja; Domm, Jennifer; Enns, Gregory M.; Finegold, David; Gargus, J. Jay; Guardamagna, Ornella; Hendriksz, Christian; Mahmoud, Iman G.; Raiman, Julian; Selim, Laila A.; Whitley, Chester B.; Zaki, Osama; Quinn, Anthony G. Share Save
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials Nagamani, Sandesh C. S.; 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, II; Wong, Derek; Coakley, Dion F.; Scharschmidt, Bruce F.; Dickinson, Klara; Marino, Miguel; Lee, Brendan H.; Mokhtarani, Masoud Share Save
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder 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, II; Schulze, Andreas; Vockley, Gerard; Kronn, David; Zori, Roberto; Summar, Marshall; Milikien, Douglas A.; Marino, Miguel; Coakley, Dion F.; Mokhtarani, Masoud; Scharschmidt, Bruce F. Share Save
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Newborn screening 50 years later: access issues faced by adults with PKU Berry, Susan A.; Brown, Christine; Grant, Mitzie; Greene, Carol L.; Jurecki, Elaina; Koch, Jean; Moseley, Kathryn; Suter, Ruth; van Calcar, Sandra C.; Wiles, Judy; Cederbaum, Stephen Share Save
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism Camp, Kathryn M.; Lloyd-Puryear, Michele A.; Yao, Lynne; Groft, Stephen C.; Parisi, Melissa A.; Mulberg, Andrew; Gopal-Srivastava, Rashmi; Cederbaum, Stephen; Enns, Gregory M.; Ershow, Abby G.; Frazier, Dianne M.; Gohagan, John; Harding, Cary; Howell, R. Rodney; Regan, Karen; Stacpoole, Peter W.; Venditti, Charles; Vockley, Jerry; Watson, Michael; Coates, Paul M. Share Save
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate Diaz, George A.; Krivitzky, Lauren S.; Mokhtarani, Masoud; Rhead, William; Bartley, James; Feigenbaum, Annette; Longo, Nicola; Berquist, William; Berry, Susan A.; Gallagher, Renata; Lichter-Konecki, Uta; Bartholomew, Dennis; Harding, Cary O.; Cederbaum, Stephen; McCandless, Shawn E.; Smith, Wendy; Vockley, Gerald; Bart, Stephen A.; Korson, Mark S.; Kronn, David; Zori, Roberto; Merritt, J. Lawrence, II; Nagamani, Sandesh C. S.; Mauney, Joseph; LeMons, Cynthia; Dickinson, Klara; Moors, Tristen L.; Coakley, Dion F.; Scharschmidt, Bruce F.; Lee, Brendan Share Save
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders Mokhtarani, M.; Diaz, G. A.; Rhead, W.; Lichter-Konecki, U.; Bartley, J.; Feigenbaum, A.; Longo, N.; Berquist, W.; Berry, S. A.; Gallagher, R.; Bartholomew, D.; Harding, C. O.; Korson, M. S.; McCandless, S. E.; Smith, W.; Vockley, J.; Bart, P. S.; Kronn, D.; Zori, R.; Cederbaum, S.; Dorrani, N.; Merritt, J. L., II; Sreenath-Nagamani, Sandesh; Summar, M.; LeMons, C.; Dickinson, K.; Coakley, D. F.; Moors, T. L.; Lee, B.; Scharschmidt, B. F. Share Save
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Recommendations for the use of sapropterin in phenylketonuria Cunningham, Amy; Bausell, Heather; Brown, Mary; Chapman, Maggie; DeFouw, Kari; Ernst, Sharon; McClure, Julie; McCune, Helen; O'Steen, Donna; Pender, Amy; Skrabal, Jill; Wessel, Ann; Jurecki, Elaina; Shediac, Renee; Prasad, Suyash; Gillis, Jane; Cederbaum, Stephen Share Save
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium Seminara, Jennifer; Tuchman, Mendel; Krivitzky, Lauren; Krischer, Jeffrey; Lee, Hye-Seung; LeMons, Cynthia; Baumgartner, Matthias; Cederbaum, Stephen; Diaz, George A.; Feigenbaum, Annette; Gallagher, Renata C.; Harding, Cary O.; Kerr, Douglas S.; Lanpher, Brendan; Lee, Brendan; Lichter-Konecki, Uta; McCandless, Shawn E.; Merritt, J. Lawrence; Oster-Granite, Mary Lou; Seashore, Margretta R.; Stricker, Tamar; Summar, Marshall; Waisbren, Susan; Yudkoff, Marc; Batshaw, Mark L. Share Save
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency Arnold, Georgianne L.; Van Hove, Johan; Freedenberg, Debra; Strauss, Arnold; Longo, Nicola; Burton, Barbara; Garganta, Cheryl; Ficicioglu, Can; Cederbaum, Stephen; Harding, Cary; Boles, Richard G.; Matern, Dietrich; Chakraborty, Pranesh; Feigenbaum, Annette Share Save
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH Shchelochkov, Oleg A.; Li, Fang-Yuan; Geraghty, Michael T.; Gallagher, Renata C.; Van Hove, Johan L.; Lichter-Konecki, Uta; Fernhoff, Paul M.; Copeland, Sara; Reimschisel, Tyler; Cederbaum, Stephen; Lee, Brendan; Chinault, A. Craig; Wong, Lee-Jun Share Save
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency Arnold, Georgianne L.; Koeberl, Dwight D.; Matern, Dietrich; Barshop, Bruce; Braverman, Nancy; Burton, Barbara; Cederbaum, Stephen; Fiegenbaum, Annette; Garganta, Cheryl; Gibson, James; Goodman, Stephen I.; Harding, Cary; Kahler, Stephen; Kronn, David; Longo, Nicola Share Save
Expanded newborn screening identifies maternal primary carnitine deficiency Schimmenti, Lisa A.; Crombez, Eric A.; Schwahn, Bernd C.; Heese, Bryce A.; Wood, Timothy C.; Schroer, Richard J.; Bentler, Kristi; Cederbaum, Stephen; Sarafoglou, Kiki; McCann, Mark; Rinaldo, Piero; Matern, Dietrich; di San Filippo, Cristina Amat; Pasquali, Marzia; Berry, Susan A.; Longo, Nicola Share Save
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