Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report.
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| Title: | Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report. |
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| Authors: | Ruiz-Martinez DA; School of Medical Sciences, Marista University, Merida, YUC, Mexico., Vega-Peniche ER; School of Medical Sciences, Marista University, Merida, YUC, Mexico., Quiñonez-Pacheco Y; Department of Pediatrics, Yucatan Health Services, General Hospital 'Dr. Agustin O'Horan', Merida, YUC, Mexico., Laviada-Molina H; Centro de Investigación en Salud Basada en Evidencia, Marista University, Merida, YUC, Mexico., Medina-Campos CA; Department of Pediatrics, Yucatan Health Services, General Hospital 'Dr. Agustin O'Horan', Merida, YUC, Mexico., Campos-Garcia FJ; Department of Genetics, Yucatan Health Services, General Hospital 'Dr. Agustin O'Horan', Merida, YUC, Mexico.; Doctoral Program in Medical Sciences, National Autonomous University of Mexico, Mexico.; Research Department, Instituto Mexicano del Seguro Social, UMAE Yucatan, Merida, YUC, Mexico. |
| Source: | SAGE open medical case reports [SAGE Open Med Case Rep] 2026 Jan 14; Vol. 14, pp. 2050313X251412221. Date of Electronic Publication: 2026 Jan 14 (Print Publication: 2026). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: SAGE Publications Country of Publication: England NLM ID: 101638686 Publication Model: eCollection Cited Medium: Print ISSN: 2050-313X (Print) Linking ISSN: 2050313X NLM ISO Abbreviation: SAGE Open Med Case Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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