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Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899867/ https://www.ncbi.nlm.nih.gov/pubmed/27326280 http://dx.doi.org/10.2484/rcr.v7i2.641 |