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Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.

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Title: Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.
Authors: León-Sanabria MC; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, D.C, Colombia. leonmaria@javeriana.edu.co.; Genetics Service and Inborn Errors of Metabolism Clinic, Hospital Universitario San Ignacio, Bogotá, D.C, Colombia. leonmaria@javeriana.edu.co., Zarante-Bahamón AM; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, D.C, Colombia.; Genetics Service and Inborn Errors of Metabolism Clinic, Hospital Universitario San Ignacio, Bogotá, D.C, Colombia.
Source: BMC medical genomics [BMC Med Genomics] 2026 Apr 10; Vol. 19 (1). Date of Electronic Publication: 2026 Apr 10.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.
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  Data: <searchLink fieldCode="AU" term="%22León-Sanabria+MC%22">León-Sanabria MC</searchLink>; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, D.C, Colombia. leonmaria@javeriana.edu.co.; Genetics Service and Inborn Errors of Metabolism Clinic, Hospital Universitario San Ignacio, Bogotá, D.C, Colombia. leonmaria@javeriana.edu.co.<br /><searchLink fieldCode="AU" term="%22Zarante-Bahamón+AM%22">Zarante-Bahamón AM</searchLink>; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, D.C, Colombia.; Genetics Service and Inborn Errors of Metabolism Clinic, Hospital Universitario San Ignacio, Bogotá, D.C, Colombia.
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2026 Apr 10; Vol. 19 (1). <i>Date of Electronic Publication: </i>2026 Apr 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12920-026-02344-3
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        Text: English
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      – TitleFull: Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.
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              Text: 2026 Apr 10
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