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.
Buscar no Google
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