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Voice alterations in patients with Morquio A syndrome

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 of glycosaminoglycans (...

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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: Szklanny, Krzysztof, Gubrynowicz, Ryszard, Tylki-Szymańska, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5799315/
https://ncbi.nlm.nih.gov/pubmed/29275451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-017-0421-6
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