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Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru

Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme α-l-iduronidase (IDUA), which is instrumental in the hydrolysis of the glycosaminoglycans, dermatan and heparan sulfate. The accumulation of unhydrolyzed glycosami...

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Detalles Bibliográficos
Autores principales:	Pineda, Tatiana, Marie, Sulie, Gonzalez, Janneth, García, Ana L., Acosta, Amparo, Morales, Manuel, Correa, Luz N., Vivas, Ricardo, Escobar, Xiomara, Protzel, Ana, Barba, Maria, Ospina, Sandra, Corredor, Clara, Mansilla, Sandra, Velasco, Harvy M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2014
Materias:	The Lysosome
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121354/ https://www.ncbi.nlm.nih.gov/pubmed/27896125 http://dx.doi.org/10.1016/j.ymgmr.2014.10.001

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