Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

INTRODUCTION: Mucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We presen...

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Detalles Bibliográficos
Autores principales: Ma, Yiyang, Peng, Hao, Hsiang, Fuchou, Fang, Haoyu, Du, Dajiang, Jiang, Chenyi, Wang, Yehui, Chen, Chun, Zhang, Changqing, Gao, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289150/
https://www.ncbi.nlm.nih.gov/pubmed/35859948
http://dx.doi.org/10.3389/fped.2022.914889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289150/
https://www.ncbi.nlm.nih.gov/pubmed/35859948
http://dx.doi.org/10.3389/fped.2022.914889

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