Results 261 to 270 of about 2,610,885 (275)

Risk of Hyperammonemic Coma in the Puerperium: Two Cases of Women With Diagnosed and Undiagnosed Deficiency of Urea Cycle Enzymes

Acta Obstetricia Et Gynecologica Scandinavica, 2010
Jukka Uotila, Matti Salo, Kati Tihtonen
exaly  

Hyperammonemia caused by deficience of the urea cycle enzymes is explained by control metabolic analysis

Biochemical Society Transactions, 2000
Pedro deAtauri, M. Dolors Magret, Marta Cascante, Tosep J. Centelles   +3 more
openaire   +1 more source

The Urea Cycle Disorders

Seminars in Neurology, 2014
Ileana Pacheco-Colón, Andrea Gropman, Guy Helman   +2 more
exaly  

Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: Activity of urea cycle enzymes

The Journal of Pediatrics, 1978
L J, Shapiro, M E, Bocian, L, Raijman, S D, Cederbaum, K N, Shaw   +4 more
openaire   +2 more sources

Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies

Journal of Inherited Metabolic Disease, 1991
D, Rabier, C, Narcy, J, Bardet, P, Parvy, J M, Saudubray, P, Kamoun   +5 more
openaire   +2 more sources

Ammonia Toxicity and Its Prevention in Inherited Defects of the Urea Cycle

Diabetes, Obesity and Metabolism, 2009
V Walker
exaly  

Sodium phenylbutyrate for urea cycle enzyme deficiencies.

The Medical letter on drugs and therapeutics, 1996
openaire   +1 more source

Genetic therapies for urea cycle disorders including OTC deficiency

Molecular Genetics and Metabolism
openaire   +1 more source

Datamining Approaches for Examining the Low Prevalence of N-Acetylglutamate Synthase Deficiency and Understanding Transcriptional Regulation of Urea Cycle Genes

Journal of Inherited Metabolic Disease
Julie Ahn, Sveta V Jagannathan, Jacob A Medina   +2 more
exaly  

Use of Pure Recombinant Human Enzymes to Assess the Disease-Causing Potential of Missense Mutations in Urea Cycle Disorders, Applied to N-Acetylglutamate Synthase Deficiency

Journal of Inherited Metabolic Disease
María L Fernández-Murga, Vicente Rubio, Clara Marco-Marín   +2 more
exaly