Communicated by Elizabeth F. Neufeld Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of a patient affected with late infantile metachromatic leukodystrophy revealed that the patient is a compound hetero
Arylsulfatase A in the urine and metachromatic leukodystrophy
β Scribed by Harry Greene; George Hug; William K. Schubert
- Book ID
- 118535188
- Publisher
- Elsevier Science
- Year
- 1967
- Tongue
- English
- Weight
- 625 KB
- Volume
- 71
- Category
- Article
- ISSN
- 1097-6833
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## Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H
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