Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026850 (
muscular dystrophy
)
5,870
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:A kindred with red cell pyruvate kinase deficiency. 88 38
