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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
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 |