Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Abstract Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this s...

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Autores principales: Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
Elosulfase alfa
Health-related quality of life
Mobility
Morquio A syndrome
Mucopolysaccharidosis IVA
Medicine
R
Acceso en línea:https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5
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https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5

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