[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