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:3.2.1.23 (
beta-galactosidase
)
14,648
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The GM1 gangliosidoses are clinically characterized by the combination of a degenerative process in the brain and of storage phenomena in extra-neural tissues, particularly in bones and visceral organs. Phenotypic variability is pronounced. "Classical" types, according to the age at onset, are infantile ("generalized"), juvenile, and adult forms. In rare variants, the degenerative process may be restricted to the basal ganglia and cause
dystonia musculorum deformans
, or it may cause infantile cardiomyopathy. Much of this variability may be explained by variable residual activities of the deficient
beta-galactosidase
towards various substrates.
...
PMID:Clinical course of GM1 gangliosidoses. 644 43
