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Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of Leigh's Disease
Pediatrics, 1981 Pyruvate carboxylase (PC) deficiency has been suggested as a biochemical cause of Leigh's disease (LD). To evaluate this hypothesis, PC activity was measured in liver, fibroblasts, and brain from patients with LD. In no patient was such a deficiency documented.
J V, Murphy +3 more
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Acta Paediatrica, 1988 ABSTRACT. Three patients with glycogen storage disease type I (GSD‐I), three with glycogen storage disease type III (GSD‐III) and one with pyruvate carboxylase deficiency (PCD) could be successfully switched over from continuous nocturnal gastric drip feeding (GDF) to nocturnal feeding with uncooked cornstarch in yoghurt or “quark” (CSF) at the age of
K, Ullrich +2 more
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[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 +4 more
openaire +2 more sources
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