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Clinical Features and Health-Related Quality of Life in Adult Patients With Mucopolysaccharidosis IVA: The Spanish Experience

key information

source: Orphanet journal of rare diseases

year: 2021

authors: Quijada-Fraile P,Arranz Canales E,Martín-Hernández E,Ballesta-Martínez MJ,Guillén-Navarro E,Pintos-Morell G,Moltó-Abad M,Moreno-Martínez D,García Morillo S,Blasco-Alonso J,Couce ML,Gil Sánchez R,Cortès-Saladelafont E,López Rodríguez MA,García-Silva MT,Morales Conejo M

summary/abstract:

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 study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL).

organization: Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias, Servicio de Pediatría, Hospital Universitario 12 de Octubre, CSUR Enfermedades Metabólicas, MetabERN, Instituto de Investigación Sanitaria Hospital 12 de octubre (imas12), CIBERER, Madrid, Spain. pilar.quijadaf@salud.madrid.org.

DOI: 10.1186/s13023-021-02074-y

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