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

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Title: Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Authors: Pineda T; Genetics Institute, Faculty of Medicine, National University of Colombia, Bogotá DC, Colombia., Marie S; Faculty of Medicine, São Paulo University, São Paulo, Brazil., Gonzalez J; Nutrition Department, Faculty of Sciences, Javeriana University, Bogotá, DC, Colombia., García AL; Pediatrics Neurology Department, Simon Bolívar Hospital, Bogotá, DC, Colombia., Acosta A; Department of Pediatrics, Faculty of Medicine, Cauca University, Popayán, Colombia., Morales M; Pediatrics Neurology Department, Children Colsubsidio Hospital, Bogotá, DC, Colombia., Correa LN; Pediatrics Neurology Department, La Misericordia Hospital, Bogotá, DC, Colombia., Vivas R; Pediatrics Neurology Department, Sogamoso Regional Hospital, Sogamoso, Colombia., Escobar X; Pediatrics Neurology Department, San Jeronico Regional Hospital of Montería, Monteria, Colombia., Protzel A; Genetics Department, National E Rebagliati Martins Hospital, Lima, Peru., Barba M; Cordero E 9-39 y 6 de Diciembre, Edificio San Francisco, Consultorio, 31, Quito, Ecuador., Ospina S; Clinica Salud Coop, Bogotá, Colombia., Corredor C; Pediatrics Department, Duitama Regional Hospital, Duitama, Colombia., Mansilla S; Pediatrics Neurology Department, Federico Lleras Hospital, Ibagué, Colombia., Velasco HM; Genetics Institute, Faculty of Medicine, National University of Colombia, Bogotá DC, Colombia.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Oct 30; Vol. 1, pp. 468-473. Date of Electronic Publication: 2014 Oct 30 (Print Publication: 2014).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2014.10.001