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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
exaly   +5 more sources

Glycogen Storage Disease Type I and III and Pyruvate Carboxylase Deficiency: Results of Long‐Term Treatment with Uncooked Cornstarch

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
openaire   +3 more sources

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency

Journal of Pediatric Endocrinology and Metabolism, 2020
Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with
Melis Demir Köse   +11 more
exaly   +2 more sources

Pyruvate carboxylase deficiency—insights from liver transplantation

Molecular Genetics and Metabolism, 2002
Robert K Naviaux   +2 more
exaly   +2 more sources

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