Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience - Quijada-Fraile, Pilar; Arranz Canales, Elena; Martín-Hernández, Elena; Ballesta-Martínez, María Juliana; Guillén-Navarro, Encarna; Pintos-Morell, Guillem; Moltó-Abad, Marc; Moreno-Martínez, David; García Morillo, Salvador; Blasco-Alonso, Javier; Couce, María Luz; Gil Sánchez, Ricardo; et al. (Orphanet journal of rare diseases, 2021)
Keywords: Activities of daily living; Adults; Apnea; Bone dysplasia; Care and treatment; Complications and side effects; Cornea; Disease; Elosulfase alfa; Enzymes; Genetic disorders; Genotype & phenotype; Health aspects; Health-related quality of life; Hearing loss; Human Genetics; Laboratories; Lysosomal storage diseases; Medical research; Medicine; Medicine & Public Health; Metabolic disorders; Mobility; Morquio A syndrome; Mucopolysaccharidosis; Mucopolysaccharidosis IVA; Mutation; N-Acetylgalactosamine; Osteotomy; Ostomy; Pain; Patient outcomes; Patients; Pediatrics; Pharmacology/Toxicology; Phenotypes; Quality of life; Questionnaires; Rare diseases; Respiratory function; Sleep disorders; Sociodemographics; Surgery; Spain; United States--US; Mobility; Health-related quality of life; Morquio A syndrome; Mucopolysaccharidosis IVA; Elosulfase alfa