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Enzymatic abnormality of the carrier state in metachromatic leukodystrophy

✍ Scribed by Taniguchi Noboru; Nanba Ichiro


Book ID
115818492
Publisher
Elsevier Science
Year
1970
Tongue
English
Weight
310 KB
Volume
29
Category
Article
ISSN
0009-8981

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Molecular basis of late infantile metach
✍ JoΓ«l Zlotogora; Gideon Bach; Claudia BΓΆusenberg; Ygal Barak; Kurt Von Figura; Vo πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 760 KB

Late infantile metachromatic leukodystrophy (MLD) is a neurodegenerative disease, most commonly caused by the deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Late infantile MLD is frequent (1/75 live birth) in a small Jewish community which lived in Habban, isolated from the other Jewish