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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…
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Keywords:
alterations patients;
voice;
morquio syndrome;
voice alterations ... See more keywords