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:C0086543 (
cataract
)
29,165
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This case report describes the history of an 8-year-old boy of full Dutch extraction with
mucopolysaccharidosis type III
D (
Sanfilippo's syndrome
type D). Learning problems started at age 5 years; deterioration is only slow at present, and consistent with most of the cases described in literature. Eight of the nine cases described in the literature so far are known to be of Italian origin. Eye investigations showed bilateral peripheral
cataract
and a fine diffuse white corneal opacity. Ocular abnormalities of this kind have not been reported before in this type of
Sanfilippo's syndrome
.
...
PMID:[Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation]. 849 33
