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:C0002986 (
Fabry
)
5,646
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic
Fabry's disease
. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have
spasticity
, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.
...
PMID:Fucosidosis. 40 53
