Results 101 to 110 of about 8,969 (140)

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

Neuropediatrics, 2018
Pyruvate carboxylase (PC) is a biotin-containing enzyme that is responsible for the adenosine triphosphate-dependent carboxylation of pyruvate to oxaloacetate, a key intermediate in the tricarboxylic acid cycle.
M. Almomen, G. Sinclair, S. Stockler-Ipsiroglu, G. Horvath   +3 more
semanticscholar   +1 more source

[Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease].

Neurologia i neurochirurgia polska, 1986
Clinical observations and results of investigations of pyruvic acid metabolism are reported in 4 children in whom subacute necrotizing encephalomyelopathy of Leigh was diagnosed intravitally. Attention is called to the similarity of the clinical manifestations with its onset in the first year of life, deficient body weight and growth, progressing ...
E, Pronicka, H, Kulczycka, J, Chmielik, G, Krajewska, J, Szeffer   +4 more
openaire   +1 more source

Pyruvate carboxylase responsive to ketosis in a multiple carboxylase deficiency patient

Journal of Inherited Metabolic Disease, 1986
A. Velázquez, D. Raesfeld, A. González-Noriega, L. González, C. Garay, R. Ortiz, V. Castillo   +6 more
semanticscholar   +1 more source

Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency

Developmental Medicine & Child Neurology, 1977
J. Biervliet, L. Bruinvis, C. Heiden, D. Ketting, S. K. Wadman, J. Willemse, L. Monnens   +6 more
semanticscholar   +1 more source

Pyruvate carboxylase deficiency

Journal of Inherited Metabolic Disease, 1984
K. Bartlett, H. K. Ghneim, J. Stirk, G. Dale, K. Alberti   +4 more
semanticscholar   +1 more source

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Annals of Neurology, 2006
À. García-Cazorla, D. Rabier, G. Touati, B. Chadefaux-Vekemans, C. Marsac, P. de Lonlay, J. Saudubray   +6 more
semanticscholar   +1 more source

Brain amino acid abnormalities in pyruvate carboxylase deficiency

Journal of Inherited Metabolic Disease, 1985
T. Perry, J. Haworth, B. Robinson
semanticscholar   +1 more source

Amino acid profile in pyruvate carboxylase deficiency: Comparison with some other metabolic disorders

Journal of Inherited Metabolic Disease, 1982
C. Charpentier, J. Tetau, H. Ogier, J. Saudubray, F. Coudé, A. Lemonnier   +5 more
semanticscholar   +1 more source

A case of benign pyruvate carboxylase deficiency with normal development

Journal of Inherited Metabolic Disease, 1997
J. Hamilton, M. Rae, R. W. Logan, P. Robinson   +3 more
semanticscholar   +1 more source

Congenital lactic acidosis due to pyruvate carboxylase deficiency: Absence of an inhibitor of TPP-ATP phosphoryl transferase

European Journal of Pediatrics, 1978
K. Tada, G. Takada, K. Omura, Y. Itokawa
semanticscholar   +1 more source