Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up.

Furujo, Mahoko; Kosuga, Motomichi; Okuyama, Torayuki

Furujo, Mahoko; Kosuga, Motomichi; Okuyama, Torayuki.

Afiliación

Furujo M; Department of Pediatrics, National Okayama Medical Center, , 1711-1, Tamasu, Kita-ku, Okayama 701-1192, Japan.
Kosuga M; Center for Lysosomal Storage Diseases, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
Okuyama T; Center for Lysosomal Storage Diseases, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.

Mol Genet Metab Rep ; 13: 69-75, 2017 Dec.

Article en En | MEDLINE | ID: mdl-28983456

Palabras clave

6MWT, 6-minute walk test; ASB, N-acetylgalactosamine 4-sulfatase; Case report; Deficient N-acetylgalactosamine 4-sulfatase; ECHO, echocardiography; ERT, enzyme replacement therapy; Enzyme replacement therapy; GAG, glycosaminoglycan; GH, growth hormone; Galsulfase; Glycosaminoglycan; IGF-1, insulin-like growth factor 1; MPS, mucopolysaccharidosis; Mucopolysaccharidosis type VI; NR, normal range; ROM, range of motion; TSH, thyroid stimulating hormone; fT4, free thyroid hormone; rh, recombinant human

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2017 Tipo del documento: Article País de afiliación: Japón

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