Results 111 to 120 of about 8,969 (140)

MRI, Clinical, and Biochemical Features of Partial Pyruvate Carboxylase Deficiency

Journal of Child Neurology, 1994
J. Higgins, A. Glasgow, M. Lusk, D. Kerr
semanticscholar   +1 more source

Lactic acidosis due to pyruvate carboxylase deficiency

Journal of Inherited Metabolic Disease, 1981
J. Haworth, B. Robinson, T. Perry
semanticscholar   +1 more source

Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria

Journal of Inherited Metabolic Disease, 1983
J. Oizumi, K. N. Shaw, Tullio A. Giudici, M. Carter, G. Donnell, W. Ng   +5 more
semanticscholar   +1 more source

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling

Journal of Inherited Metabolic Disease, 1983
Akira Tsuchiyama, K. Oyanagi, S. Hirano, N. Tachi, H. Sogawa, K. Wagatsuma, Tooru Nakao, S. Tsugawa, Y. Kawamura   +8 more
semanticscholar   +1 more source

Pyruvate carboxylase deficiency in twins

Journal of Inherited Metabolic Disease, 1986
M. A. Pollock, M. Cumberbatch, M. Bennett, R. Gray, M. Brand, Keith Hyland, P. Congdon, T. Pitts-Tucker, Selena Gray   +8 more
semanticscholar   +1 more source

Secondary Citrullinemia with Hyperammonemia in Four Neonatal Cases of Pyruvate Carboxylase Deficiency

Pediatrics, 1981
Munnich A, Charpentier C, Coude F X
exaly  

[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity].

Anales de Pediatría, 2014
I. Vitoria, D. Rausell, I. González, C. Pérez‐Cerdá, J. Dalmau   +4 more
semanticscholar   +1 more source

Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease)

Neurology, 1984
James E. Sander, S. Packman, B. Berg, H. Hutchison, N. Caswell   +4 more
semanticscholar   +1 more source

Hepatic phosphoenolpyruvate carboxykinase deficiency: a neonatal case with reduced activity of pyruvate carboxylase

Journal of Inherited Metabolic Disease, 1989
M. Matsuo, E. Maeda, Hajime Nakamura, K. Koike, M. Koike   +4 more
semanticscholar   +1 more source

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

Human Mutation, 2009
Julie Steffann, Sophie Monnot
exaly