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JCEM Case Reports. 1
Introduction Mucopolysaccharidosis (MPS) IVA (Morquio syndrome) is a rare lysosomal storage disease, that is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to an autosomal recessive mutation in the GALNS gene. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::435c17153e05baa57edcbab9803703be
https://doi.org/10.1210/jcemcr/luac014.022
https://doi.org/10.1210/jcemcr/luac014.022
