Neurophysiology and MRI in late-infantile metachromatic leukodystrophy
β Scribed by Dimitrios I Zafeiriou; Eleftherios E Kontopoulos; Helen M Michelakakis; Athanasia L Anastasiou; Nikos P Gombakis
- Book ID
- 117592144
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 131 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0887-8994
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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
Communicated by H. H. Dahl Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8). The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polyme