Voice alterations in patients with Morquio A syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Applied Genetics"
DOI: 10.1007/s13353-017-0421-6
Abstract: Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation… read more here.
Keywords: alterations patients; voice; morquio syndrome; voice alterations ... See more keywords
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100679
Abstract: Introduction Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the… read more here.
Keywords: replacement therapy; morquio syndrome; patients morquio; enzyme replacement ... See more keywords