We are analyzing https://link.springer.com/article/10.1007/bf00314498.

Title:
Muscle glucose-6-phosphate dehydrogenase deficiency | Journal of Neurology
Description:
Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, the elder showing moderate exercise intolerance. Histochemical and biochemical studies showed a lack of G6PD activity in muscle biopsy specimens as well as in erythrocytes. G6PD characterization in erythrocytes classified these mutant enzymes as Mediterranean variant in all the patients. The deficiency was confirmed in the patients
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Keywords {🔍}

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Topics {✒️}

month download article/chapter glucose-6-phosphate dehydrogenase heterozygosity erythrocyte glucose-6-phosphate dehydrogenase glucose-6-phosphate dehydrogenase deficiency glucose-6-phosphate dehydrogenase mutations severe metabolic complications mcardle disease glucose-6-phosphate dehydrogenase glucose-6-phosphate deficiency muscle metabolism tandon rk neuromuscular diseases privacy choices/manage cookies phosphoglycerate kinase deficiency systemic carnitine deficiency full article pdf single electrophoretic band muscle phosphofructokinase deficiency autosomal recessive inheritance muscle biopsy specimens muscle enzyme defect newly recognized defects mature human brain high creatine kinase muscle g6pd deficiency european economic area scope submit manuscript related subjects immunologically detectable enzyme cellulose acetate plates cross-country runner sickle cell trait exertion-induced rhabdomyolysis folin phenol reagent red cell enzymopathies van noorden cj myoblast defect identified duchenne muscular dystrophy tech rep ser clinically heterogeneous patients southern brazilian patients acute viral hepatitis conditions privacy policy severe muscular dystrophy disseminated intravascular coagulation heavy-resistance exercise red cells enzymes reappearing phosphorylase activity accepting optional cookies journal finder publish

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