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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...

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Detalles Bibliográficos
Autores principales:	Anand, Reena, Bhatia, Deepak, Yadav, D.S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Article
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

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