Results 121 to 130 of about 8,969 (140)

Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase

Journal of Inherited Metabolic Disease, 1979
J. Biervliet, M. Durán, S. K. Wadman, J. Koster, A. Rossum   +4 more
semanticscholar   +1 more source

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

Pediatric Research, 1979
Merton F Utter
exaly  

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.

Jornal de Pediatria, 1982
W. Sherwood, M. Saunders, B. Robinson, T. Brewster, R. Gravel   +4 more
semanticscholar   +1 more source

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

Molecular Genetics and Metabolism, 2006
Manuel Schiff, Cecile Acquaviva Bourdain, Nathalie Guffon   +2 more
exaly  

Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.

Journal of Inherited Metabolic Disease, 1984
E. Baumgartner, T. Suormala, H. Wick, J. Bonjour   +3 more
semanticscholar   +1 more source

Lipid metabolism in biotin-responsive multiple carboxylase deficiency

Journal of Inherited Metabolic Disease, 1985
M. Gonzalez‐Rios, S. Whitney, M. Williams, P. Elias, S. Packman   +4 more
semanticscholar   +1 more source

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

Journal of Inherited Metabolic Disease, 1996
Brian H. Robinson, N. Mackay, K. Chun, Mingfu Ling   +3 more
semanticscholar   +1 more source

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

Clinical Biochemistry, 1995
N Rifai
exaly  

STUDIES ON PYRUVATE CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY

Acta Paediatrica Scandinavica, 1982
T. L. Hansen, Ernst Christensen, N. Brandt   +2 more
semanticscholar   +1 more source

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

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