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
Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation
✍ Scribed by A Biffi; M Cesani; F Fumagalli; U Del Carro; C Baldoli; S Canale; S Gerevini; S Amadio; M Falautano; A Rovelli; G Comi; MG Roncarolo; M Sessa
- Book ID
- 110888659
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 338 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0009-9163
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Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B 12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel mutations were identified, as well as 23 mutations that