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. |
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| 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 |
| ISSN: | 1755-8794 |
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| DOI: | 10.1186/s12920-026-02344-3 |
