ملخص
Metachromatic leukodystrophy is a lysosomal disease caused mainly by a deficiency of the enzyme arylsulfatase A. The assay of arylsulfatase A in the serum provides a fast and easy method for the confirmatory diagnosis of this disorder. Serum arylsulfatase A was estimated in 52 normal healthy control subjects and 269 patients with symptoms of cerebral white matter disease in order to diagnose and confirm metachromatic leukodystrophy. A total of eight cases of metachromatic leukodystrophy with a low serum arylsulfatase A was detected, of which three cases were of the late-infantile type, four cases the juvenile type and only one case the adult type.
اللغة الأصلية | English |
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الصفحات (من إلى) | 89-92 |
عدد الصفحات | 4 |
دورية | Indian Journal of Clinical Biochemistry |
مستوى الصوت | 10 |
رقم الإصدار | 2 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - يوليو 1995 |
منشور خارجيًا | نعم |
ASJC Scopus subject areas
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