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Late-onset metachromatic leukodystrophy: Molecular pathology in two siblings

✍ Scribed by Dr Joachim Kappler; Kurt von Figura; Volkmar Gieselmann


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
928 KB
Volume
31
Category
Article
ISSN
0364-5134

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πŸ“œ SIMILAR VOLUMES


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