Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
Mucopolysaccharidosis (MPS) type VI or Maroteaux-Lamy syndrome is a very rare autosomal recessive lysosomal storage disease, caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB). Clinical examination, biochemical studies, and molecular genetic analyses have...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley-Liss Inc.
2014
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| Online Access: | http://www.scopus.com/inward/record.url?eid=2-s2.0-84899952631&partnerID=40&md5=21e373dca749fdb05c7578a5c1476131 http://www.ncbi.nlm.nih.gov/pubmed/24677745 http://cmuir.cmu.ac.th/handle/6653943832/986 |
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| Institution: | Chiang Mai University |
| Language: | English |