Listar Ciencias de la Salud por tema "Mucopolissacaridose IV"
Mostrando ítems 1-6 de 6
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Clinical outcomes in a subpopulation of adults with Morquio A syndrome : results from a long-term extension study of elosulfase alfa
(2017) [Artículo de periódico]Background: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 ... -
Long-term galsufase treatment associated with improved survival of patients with mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) : 15-year follow-up from the survey study
(2018) [Artículo de periódico]Mucopolysaccharidosis VI (MPS VI) is a progressive lysosomal storage disorder with multiorgan and multisystemic pathology. Currently, galsulfase enzyme replacement therapy (ERT) is the only approved treatment for MPS VI. ... -
Minimal clinically important difference for the 6-min walk test : literature review and application to Morquio A syndrome
(2017) [Artículo de periódico]Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multisystemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, ... -
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants
(2021) [Artículo de periódico]Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ... -
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype
(2021) [Artículo de periódico]Background Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant ... -
Recommendations for the management of MPS IVA : systematic evidence- and consensus-based guidance
(2019) [Artículo de periódico]Introduction: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs ...