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Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)

Mucopolysaccharidosis (MPS) IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disorder caused by a mutation affecting the enzyme N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4, GALNS). Enzyme replacement therapy (ERT) has been shown to improve physical performance, quality of life,...

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Principais autores: Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2025-03-01
coleção:Molecular Genetics and Metabolism Reports
Assuntos:
Dysostosis multiplex
Elosulfase alfa
Morquio A syndrome
Enzyme replacement therapy
MPS IVA
Mucopolysaccharidosis
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2214426925000047
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