Resultats de la cerca - Stephen Cederbaum
- Mostrar 1 - 8 resultats de 8
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Newborn screening 50 years later: access issues faced by adults with PKU per Susan A. Berry, Christine Brown, Mitzie Grant, Carol L. Greene, Elaina Jurecki, Jean Koch, Kathryn Moseley, Ruth Suter, Sandra C. Van Calcar, Judy Wiles, Stephen Cederbaum
Publicat 2013Revisão -
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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency per Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Arnold W. Strauss, Nicola Longo, Barbara K. Burton, Cheryl Garganta, Can Fıçıcıoğlu, Stephen Cederbaum, Cary O. Harding, Richard G. Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum
Publicat 2009Artigo -
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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants per Simon Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin G. Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David N. Finegold, J. Jay Gargus, Ornella Guardamagna, Christian J. Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila Selim, Chester B. Whitley, Osama K. Zaki, Anthony G. Quinn
Publicat 2015Artigo -
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium per Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey P. Krischer, Hye Seung Lee, Cynthia LeMons, Matthias R. Baumgartner, Stephen Cederbaum, George A. Díaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan C. Lanpher, Brendan Lee, Uta Lichter‐Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster‐Granite, Margretta R. Seashore, Tamar Stricker, Marshall Summar, Susan E. Waisbren, Marc Yudkoff, Mark L. Batshaw
Publicat 2010Revisão -
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Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate per George A. Díaz, Lauren Krivitzky, Masoud Mokhtarani, William J. Rhead, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Uta Lichter‐Konecki, Dennis Bartholomew, Cary O. Harding, Stephen Cederbaum, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, Mark Korson, David Kronn, Roberto Zori, Lawrence Merritt, Sandesh C. Sreenath Nagamani, Joseph Mauney, Cynthia LeMons, Klara Dickinson, Tristen Moors, Dion F. Coakley, Bruce F. Scharschmidt, Brendan Lee
Publicat 2012Artigo -
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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders per Masoud Mokhtarani, George A. Díaz, William J. Rhead, Uta Lichter‐Konecki, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Dennis Bartholomew, Cary O. Harding, Mark Korson, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, David Kronn, Roberto Zori, Stephen Cederbaum, Naghmeh Dorrani, J. Lawrence Merritt, Sandesh Sreenath-Nagamani, Marshall Summar, Cynthia LeMons, Klara Dickinson, Dion F. Coakley, Tristen Moors, B. Lee, Bruce F. Scharschmidt
Publicat 2012Artigo
Eines de cerca:
Matèries relacionades
Medicine
Chemistry
Amino acid
Biochemistry
Internal medicine
Arginine
Urea cycle
Ammonia
Cognition
Disease
Gastroenterology
Neurocognitive
Pediatrics
Phenylbutyrate
Psychiatry
Urea
Alternative medicine
Biology
Biomarker
Catalysis
Cause of death
Cofactor
Cohort
Diarrhea
Dosing
Environmental health
Enzyme
Genetics
Glycerol
Hematopoietic stem cell transplantation