Navegação Ciências da Saúde por Assunto "MPS IVA"
Resultados 1-3 de 3
-
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 ... -
Recommendations for the management of MPS IVA : systematic evidence- and consensus-based guidance
(2019) [Artigo 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 ...