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Serum arylsulfatase A assay in metachromatic leukodystrophy: An experience in a neuropsychiatric set-up

โœ Scribed by Rita Christopher; C. P. Narayanan; G. R. Arunodaya; K. Taranath Shetty


Book ID
112921449
Publisher
Association of Clinical Biochemistry of India
Year
1995
Tongue
English
Weight
330 KB
Volume
10
Category
Article
ISSN
0970-1915

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An 11-bp deletion in the arylsulfatase A
โœ Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 572 KB

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts