Juan Darío Ortigoza‐Escobar
Hospital Sant Joan de Déu Barcelona(ES)Instituto de Salud Carlos III(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Sant Joan de Déu Research Foundation(ES)ERN GUARD-Heart(NL)Instituto de Investigación de Enfermedades Raras(ES)ERN-RND(DE)Institut de Recerca Sant Joan de Déu
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic Neurodegenerative Diseases, Neurological disorders and treatments, Metabolism and Genetic Disorders
Most-Cited Works
- → The model of palliative care in the perinatal setting: a review of the literature(2012)151 cited
- → Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies(2019)124 cited
- → Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease(2017)91 cited
- → Ndufs4 related Leigh syndrome: A case report and review of the literature(2016)81 cited
- → Thiamine transporter-2 deficiency: outcome and treatment monitoring(2014)69 cited
- → Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome(2015)68 cited