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

• المؤلفون الرئيسيون: Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli, Ashwin Dalal
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84899952631&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/53298

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...