Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
β Scribed by Imen Dorboz; Eleonore Eymard-Pierre; Rym Kefi; Sonia Abdelhak; Najoua Miladi; Odile Boespflug-Tanguy
- Book ID
- 119303491
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 345 KB
- Volume
- 287
- Category
- Article
- ISSN
- 0022-510X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests itself with a broad spectrum of clinical variants, all characterized by progressive neurodegeneration in the central and peripheral nervous syst
Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra