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A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS II, also...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607870/ https://www.ncbi.nlm.nih.gov/pubmed/34849229 http://dx.doi.org/10.1002/ccr3.5122 |