Results 131 to 140 of about 6,583 (140)

Prolonged survival in pyruvate carboxylase deficiency: Lack of correlation with enzyme activity in cultured fibroblasts

Clinical Biochemistry, 1995
Ritu Nayar
exaly  

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

Molecular Genetics and Metabolism, 2010
Charles R Roe, Juan M Pascual
exaly  

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants inPCand analysis of the genotype–phenotype correlation

Human Mutation, 2019
Emanuele G Coci, Vytautas Gapsys, Jerry Vockley   +2 more
exaly  

An atypical French form of pyruvate carboxylase deficiency

Brain and Development, 1995
Mercè Pineda, Jaume Campistol, A Ribes   +2 more
exaly  

Pyruvate carboxylase deficiency—insights from liver transplantation

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

ANTENATAL DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY

Lancet, The, 1981
C Marsac, J BOUE
exaly  

Carrier Detection of Pyruvate Carboxylase Deficiency in Fibroblasts and Lymphocytes

Pediatric Research, 1979
exaly  

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate

American Journal of Medical Genetics Part A, 1999
Stephen G Kähler, Priya S Kishnani, A S Pappu   +2 more
exaly  

Pyruvate carboxylase deficiency, studies on patients and on an animal model system

1980
F A Hommes, Hommes F A
exaly  

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency

Advances in Laboratory Medicine / Avances En Medicina De Laboratorio
Eresha Jasinge, Mihika Fernando, Neluwa-Liyanage R Indika   +2 more
exaly