Navegação Ciências da Saúde por Assunto "Mucopolysaccharidosis IVA"
Resultados 1-4 de 4
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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) [Artigo 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 ... -
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis (MPS IVA)
(2007) [Artigo de periódico]Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated ... -
Minimal clinically important difference for the 6-min walk test : literature review and application to Morquio A syndrome
(2017) [Artigo 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) [Artigo 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 ...