Results 121 to 130 of about 6,583 (140)

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, H, Schmidt, A, van Teeffelen-Heithoff   +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
Colak, R., Atılgan, Taner, Kulali, F., Demir Köse, M., Dr., Yildiz, M., Alkan, S., Yangin Ergon, E.   +6 more
exaly   +2 more sources

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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, H, Kulczycka, J, Chmielik, G, Krajewska, J, Szeffer   +4 more
openaire   +1 more source

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

Pediatrics, 1981
F X Coude, H Ogier, C Marsac
exaly  

Pyruvate‐Carboxylase Deficiency with Urea Cycle Impairment

Acta Paediatrica, International Journal of Paediatrics, 1985
E Holme
exaly  

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

Human Mutation, 2009
Sophie Monnot, Bernadette Chadefaux-Vekemans, P De Lonlay   +2 more
exaly  

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

Pediatric Research, 1979
M F Utter
exaly  

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

Molecular Genetics and Metabolism, 2006
Manuel Schiff, N Guffon, Christine Vianey-Saban   +2 more
exaly  

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Human Mutation, 2002
Derek A Applegarth
exaly  

Prenatal diagnosis of pyruvate carboxylase deficiency

Prenatal Diagnosis, 1985
B H Robinson, J R Toone, James E Dimmick
exaly