Results 251 to 260 of about 41,607 (263)

Urea Cycle Disorders

2007
C. Bachmann, O. Braissant, L. Cagnon, H. Henry, I. Kern   +4 more
openaire   +2 more sources

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Journal of Inherited Metabolic Disease, 2019
Johannes Häberle, Alberto Burlina, Anupam Chakrapani   +2 more
exaly  

Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision‐making in rare disease

Journal of Inherited Metabolic Disease, 2020
Maya T Gerstein, Kan Z Gianattasio, Cynthia Le Mons   +2 more
exaly  

New insights in nutritional management and amino acid supplementation in urea cycle disorders

Molecular Genetics and Metabolism, 2010
Fernando Scaglia
exaly  

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Journal of Inherited Metabolic Disease, 2019
Roland Posset, Sven F Garbade, Nikolas Boy   +2 more
exaly  

Urea Cycle Disorders

1995
openaire   +1 more source

Urea Cycle Disorders

2009
Gudrun Rappold, John-John B. Schnog, Victor E. A. Gerdes, Yvonne G. Weber, Jose M. Serratosa, Anna-Elina Lehesjoki, Alessandra Baumer, André B. P. Kuilenburg, Albert H. Gennip*, David C. Rees, Lynette D. Fairbanks, H. Anne Simmonds, Albrecht Hesse, Albrecht Hesse, Diana J. Zimmermann, Gerd E. Von Unruh, Bernd Hoppe, Roswitha Siener, Albrecht Hesse, Naim M. Maalouf, MaryAnn Cameron, Khashayar Sakhaee, Alexander K. C. Leung, Susan Kupka, Markus Pfister, Nikolaos E. Bechrakis, Henry J. Kaplan, Hui Shao, Deming Sun   +28 more
openaire   +1 more source

Urea cycle disorders

2014
Derek Wong, Stephen Cederbaum
openaire   +1 more source

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes

Acta Paediatrica, International Journal of Paediatrics, 2008
Marshall Summar, Dries Dobbelaere, Saul Brusilow   +2 more
exaly  

Urea Cycle Disorders

2008
openaire   +1 more source