Juan Darío Ortigoza‐Escobar

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian Rice, Naoki Kitabayashi, Magalie Barth et al. · Neuropediatrics · 2017 · 90 citations · Full text

Thiamine transporter-2 deficiency: outcome and treatment monitoring

Juan Darío Ortigoza‐Escobar, Mercedes Serrano, Marta Molero et al. · Orphanet Journal of Rare Diseases · 2014 · 69 citations · Full text

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Juan Darío Ortigoza‐Escobar, Marta Molero-Luís, Ángela Arias et al. · Brain · 2015 · 68 citations · Full text

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

Laura Martí‐Sánchez, Juan Darío Ortigoza‐Escobar, Alejandra Darling et al. · Orphanet Journal of Rare Diseases · 2018 · 68 citations · Full text

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero-Luís et al. · Annals of Neurology · 2017 · 65 citations