Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
โ Scribed by X Wang; W Zhang; H Shi; Z Qiu; Y Meng; F Yao; M Wei
- Book ID
- 115091949
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 805 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0009-9163
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Mucopolysaccharidosis type I (MPS-I orMPS1) is an autosomal recessive condition characterized by a broad range of clinical symptoms. Molecular diagnosis of MPS-I is important for analyzing genotype-phenotype correlation and for selecting patients for innovative therapies. In this study we analyzed 3
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Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate