Results 131 to 140 of about 8,969 (140)

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

Human Mutation, 2019
Rebecca Ganetzky, Neal Sondheimer, Vytautas Gapsys   +2 more
exaly  

Studies on pyruvate carboxylase from cultured human fibroblasts and amniotic fluid cells

Journal of Inherited Metabolic Disease, 1979
T. L. Hansen, E. Christensen
semanticscholar   +1 more source

An atypical French form of pyruvate carboxylase deficiency

Brain and Development, 1995
T Temudo, Mercè Pineda, Jaume Campistol   +2 more
exaly  

Pyruvate carboxylase deficiencies: Complementation studies between “French” and “American” phenotypes in cultured fibroblasts

Journal of Inherited Metabolic Disease, 1985
C. Augereau, D. P. Dinh, A. Moncion, C. Marsac, J. Saudubray, B. Robinson   +5 more
semanticscholar   +1 more source

Pyruvate carboxylase activity in lymphoblasts

Journal of Inherited Metabolic Disease, 1982
G. Takada, M. Ohtake, S. Miyabayashi, K. Narisawa, K. Tada   +4 more
semanticscholar   +1 more source

Pyruvate‐Carboxylase Deficiency with Urea Cycle Impairment

Acta Paediatrica, International Journal of Paediatrics, 1985
exaly  

ANTENATAL DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY

Lancet, The, 1981
J BOUE
exaly  

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

American Journal of Medical Genetics Part A, 1999
Priya Kishnani, Robert Steiner, A S Pappu   +2 more
exaly  

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

Human Mutation, 2002
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, Patricia M Jones, Subhashinie Jayasena   +2 more
exaly