Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population
β Scribed by Pallavi Shukla; Suman Vasisht; Ranjana Srivastava; Neerja Gupta; Manju Ghosh; Manoj Kumar; Raju Sharma; Arun K. Gupta; Punit Kaur; Mahesh Kamate; Sheffali Gulati; Veena Kalra; Shubha Phadke; Pratibha Singhi; Alpa J. Dherai; Madhulika Kabra
- Book ID
- 119303942
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 663 KB
- Volume
- 301
- Category
- Article
- ISSN
- 0022-510X
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Communicated by Robert I. Desnick Metachromatic leukodystmphy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide). This metabolic block is often due to defective functioning of the lysosomal enzyme aryl
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