
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up
Keywords: Mucopolysaccharidosis نوع VI; Case report; Deficient N-acetylgalactosamine 4-sulfatase; Enzyme replacement therapy; Galsulfase; Glycosaminoglycan; Mucopolysaccharidosis type VI; ASB; N-acetylgalactosamine 4-sulfatase; ECHO; echocardiography; ERT; enzyme replacement therapy; fT4; free