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)
In Triton X-100 solubilized leukocytes of 17 patients and 8 obligate carriers of
X-linked recessive ichthyosis
(
XLI
) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to
beta-galactosidase
activity. The ASC/beta-gal ratio of
XLI
patients is markedly decreased (range 0.07-0.48) in comparison to the corresponding control group of males (range 1.3-2.7). The enzyme ratios of 8 obligate carriers of
XLI
are decreased (range 0.90-1.9) in comparison to the normal females (2.13-5.52). These results indicate that the determination of the enzyme ratio of ASC/beta-gal in Triton X-100 solubilized leukocytes is a sensitive test for biochemical identification of patients and probably of carriers of
XLI
.
...
PMID:Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis. 310 20
