Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

• Main Authors: Kantaputra P.N., Kayserili H., Guven Y., Kantaputra W., Balci M.C., Tanpaiboon P., Tananuvat N., Uttarilli A., Dalal A.
• Format: Article
• Language: English
• Published: Wiley-Liss Inc. 2014
• 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
• Institution: Chiang Mai University

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...