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Mucopolysaccharidosis type 4 (Morquio syndrome): A case report

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. Herein, we present a MPS IVA case without regular fol...

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Detalles Bibliográficos
Autores principales:	Akçay, Seçkin, Akagündüz, Fırat, Ölmez, Osman, Öztürk Hişmi, Burcu, Gözü, Hülya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Bone & Calcium
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653163/ http://dx.doi.org/10.1210/jcemcr/luac014.022

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