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[Hereditary erythrocyte pyruvate kinase abnormality: another kindred from Aargau Canton]. / Hereditäre Pyruvatkinase-Anomalie der Erythrozyten: eine weitere Sippe aus dem Kanton Aargau.
Schweiz Med Wochenschr ; 114(41): 1434-6, 1984 Oct 13.
Article em De | MEDLINE | ID: mdl-6494874
A Swiss family with abnormal red cell pyruvate kinase is described. In two new-born siblings the red cell defect was responsible for marked hyperbilirubinemia. At the present time both children have compensated hemolysis and are clinically healthy. The abnormal enzyme is unstable and has a decreased Hill coefficient and a decreased substrate affinity. It is different from two other enzyme variants found in the same area.
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Eritrócitos / Erros Inatos do Metabolismo Tipo de estudo: Etiology_studies Limite: Female / Humans / Newborn Idioma: De Revista: Schweiz Med Wochenschr Ano de publicação: 1984 Tipo de documento: Article País de publicação: Suíça
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Eritrócitos / Erros Inatos do Metabolismo Tipo de estudo: Etiology_studies Limite: Female / Humans / Newborn Idioma: De Revista: Schweiz Med Wochenschr Ano de publicação: 1984 Tipo de documento: Article País de publicação: Suíça