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pyruvate carboxylase deficiency disease/carbohydrate

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ČlankiKliničnih preskušanjPatenti
3 rezultatov

Pyruvate carboxylase deficiency in pleiotropic carbohydrate-negative mutant strains of Pseudomonas aeruginosa.

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Prijava / prijava
Cell extracts of Pseudomonas aeruginosa strain PAO were found to contain pyruvate carboxylase activity. Specific activities were minimal when cells were grown on Casamino Acids, acetate, or succinate, but were three- to fourfold higher when cells were grown in glucose, gluconate, glycerol, lactate,

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.

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Prijava / prijava
The most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X-linked E1 alpha gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate-sensitive

Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.

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Prijava / prijava
OBJECTIVE To compare the prevalence of hereditary metabolic diseases in the native and non-native populations of Manitoba and northwestern Ontario. METHODS Retrospective analysis. METHODS Children's Hospital, Winnipeg. METHODS Patients were selected by three methods: laboratory tests designed to
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