Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014–2016)

INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of a specific lysosomal enzyme involved in glycosaminoglycans (GAGs) degradation. This enzyme deficiency leads to accumulation of GAGs in the lysosomes, resulting in organ dysfunction and enlargemen...

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Detalles Bibliográficos
Autores principales: Omar, Affandi, Jalil, Julaina A., Shakrin, Norashareena M., Ngu, Lock H., Yunus, Zabedah M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517573/
https://www.ncbi.nlm.nih.gov/pubmed/31193155
http://dx.doi.org/10.1016/j.ymgmr.2019.100469

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