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. |
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| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 27896125 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pineda+T%22">Pineda T</searchLink>; Genetics Institute, Faculty of Medicine, National University of Colombia, Bogotá DC, Colombia.<br /><searchLink fieldCode="AU" term="%22Marie+S%22">Marie S</searchLink>; Faculty of Medicine, São Paulo University, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Gonzalez+J%22">Gonzalez J</searchLink>; Nutrition Department, Faculty of Sciences, Javeriana University, Bogotá, DC, Colombia.<br /><searchLink fieldCode="AU" term="%22García+AL%22">García AL</searchLink>; Pediatrics Neurology Department, Simon Bolívar Hospital, Bogotá, DC, Colombia.<br /><searchLink fieldCode="AU" term="%22Acosta+A%22">Acosta A</searchLink>; Department of Pediatrics, Faculty of Medicine, Cauca University, Popayán, Colombia.<br /><searchLink fieldCode="AU" term="%22Morales+M%22">Morales M</searchLink>; Pediatrics Neurology Department, Children Colsubsidio Hospital, Bogotá, DC, Colombia.<br /><searchLink fieldCode="AU" term="%22Correa+LN%22">Correa LN</searchLink>; Pediatrics Neurology Department, La Misericordia Hospital, Bogotá, DC, Colombia.<br /><searchLink fieldCode="AU" term="%22Vivas+R%22">Vivas R</searchLink>; Pediatrics Neurology Department, Sogamoso Regional Hospital, Sogamoso, Colombia.<br /><searchLink fieldCode="AU" term="%22Escobar+X%22">Escobar X</searchLink>; Pediatrics Neurology Department, San Jeronico Regional Hospital of Montería, Monteria, Colombia.<br /><searchLink fieldCode="AU" term="%22Protzel+A%22">Protzel A</searchLink>; Genetics Department, National E Rebagliati Martins Hospital, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Barba+M%22">Barba M</searchLink>; Cordero E 9-39 y 6 de Diciembre, Edificio San Francisco, Consultorio, 31, Quito, Ecuador.<br /><searchLink fieldCode="AU" term="%22Ospina+S%22">Ospina S</searchLink>; Clinica Salud Coop, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Corredor+C%22">Corredor C</searchLink>; Pediatrics Department, Duitama Regional Hospital, Duitama, Colombia.<br /><searchLink fieldCode="AU" term="%22Mansilla+S%22">Mansilla S</searchLink>; Pediatrics Neurology Department, Federico Lleras Hospital, Ibagué, Colombia.<br /><searchLink fieldCode="AU" term="%22Velasco+HM%22">Velasco HM</searchLink>; Genetics Institute, Faculty of Medicine, National University of Colombia, Bogotá DC, Colombia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2014 Oct 30; Vol. 1, pp. 468-473. <i>Date of Electronic Publication: </i>2014 Oct 30 (<i>Print Publication: </i>2014). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=27896125 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ymgmr.2014.10.001 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 468 Titles: – TitleFull: Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pineda T – PersonEntity: Name: NameFull: Marie S – PersonEntity: Name: NameFull: Gonzalez J – PersonEntity: Name: NameFull: García AL – PersonEntity: Name: NameFull: Acosta A – PersonEntity: Name: NameFull: Morales M – PersonEntity: Name: NameFull: Correa LN – PersonEntity: Name: NameFull: Vivas R – PersonEntity: Name: NameFull: Escobar X – PersonEntity: Name: NameFull: Protzel A – PersonEntity: Name: NameFull: Barba M – PersonEntity: Name: NameFull: Ospina S – PersonEntity: Name: NameFull: Corredor C – PersonEntity: Name: NameFull: Mansilla S – PersonEntity: Name: NameFull: Velasco HM IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 10 Text: 2014 Oct 30 Type: published Y: 2014 Identifiers: – Type: issn-print Value: 2214-4269 Numbering: – Type: volume Value: 1 Titles: – TitleFull: Molecular genetics and metabolism reports Type: main |
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