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A kindred with red cell pyruvate kinase deficiency.
Med J Aust ; 1(26): 954-5, 1977 Jun 25.
Article em En | MEDLINE | ID: mdl-887038
A case is described of mild haemolytic anaemia in a female homozygous for pyruvate kinase deficiency, with 20% of normal enzyme activity and with the unexplained associations that she suffers from angina pectoris and that three of her children died in childhood from a muscular dystrophy presumed to be Werdnig-Hoffman disease.
Assuntos
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Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Eritrócitos / Anemia Hemolítica Congênita não Esferocítica Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 1977 Tipo de documento: Article
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Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Eritrócitos / Anemia Hemolítica Congênita não Esferocítica Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 1977 Tipo de documento: Article