Results 131 to 140 of about 13,556 (147)

Pyruvate-Carboxylase-Mediated Anaplerosis Promotes Antioxidant Capacity by Sustaining TCA Cycle and Redox Metabolism in Liver

Cell Metabolism, 2019
Stanisław Deja, Blanka Kucejova, Justin A Fletcher   +2 more
exaly  

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Human Mutation, 2009
Sophie Monnot, julie Steffann, Jean-Paul BONNEFONT   +2 more
exaly  

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Annals of Neurology, 2006
Àngels García-Cazorla
exaly  

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Human Mutation, 2002
Mary Anna Carbone
exaly  

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation

Molecular Genetics and Metabolism, 2006
Manuel Schiff
exaly  

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

Molecular Genetics and Metabolism, 2005
Fanny Mochel, Henri Brunengraber
exaly  

ANTENATAL DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY

Lancet, The, 1981
exaly  

PRENATAL TREATMENT OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY

Lancet, The, 1982
exaly  

Pyruvate carboxylase deficiency—insights from liver transplantation

Molecular Genetics and Metabolism, 2002
Robert K Naviaux, Bruce A Barshop, Joel E Lavine   +2 more
exaly  

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

Pediatric Research, 1979
exaly