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:3.1.6.1 (
sulfatase
)
3,205
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
X-linked ichthyosis is an inborn error of metabolism due to the deficiency of steroid sulfatase. We reported two cases of the patients associated with myopathies, which are
Duchenne muscular dystrophy (DMD)
and myotonic dystrophy (MyD), respectively. In addition to
DMD
and MyD, they showed corneal opacities, lack of steroid-
sulfatase
activities in peripheral leukocytes and massive accumulation of cholesterol sulfate in plasma. Such cases were not reported, previously. Assay of steroid sulfatase and cholesterol sulfate in the patients having ichthyosis is important to elucidate the wide clinical spectrum of steroid sulfatase deficiency.
...
PMID:[Two cases of X-linked ichthyosis associated with myopathies]. 225 21
