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: EC:3.2.1.20 (
alpha-glucosidase
)
4,237
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic
restrictive cardiomyopathy
. The diagnosis of type II glycogenosis was confirmed by the total absence of
alpha-1,4-glucosidase
in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.
...
PMID:Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report. 677 81
