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:3.1.6.12 (
chondroitinase
)
2,183
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An 8-year-old boy with Hurler-like traits including
severe mental retardation
excreted in his urine a pathognomonic amount of dermatan sulfate. Less than 10% residual activity of
arylsulfatase B
was found in his leucocytes and fibroblasts. Hurler fibroblasts corrected an abnormally high 35SO4-incorporation into acid mucopolysaccharides (MPS) in cultured fibroblasts, whereas Maroteaux-Lamy fibroblasts did not. The patient thus has a rare combination of Maroteaux-Lamy and
severe mental retardation
.
...
PMID:Mental retardation in a patient with Maroteaux-Lamy. 310 57
