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List of works by Darío Ortigoza-Escobar

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

scientific article published on 04 July 2018

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study

scientific article

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results

scientific article published on 20 July 2018

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

scientific article published on 10 December 2015

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies

article

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

scientific article published on 10 April 2017

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

scientific article published on 30 January 2018

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

scientific article published on 10 January 2019

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

scientific article published on 05 January 2019

Ndufs4 related Leigh syndrome: A case report and review of the literature.

scientific article published on 11 April 2016

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

scientific article published on 22 February 2018

The model of Palliative Care in the perinatal setting: a review of the literature

scientific article

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

scientific article published on 18 July 2017

Thiamine transporter-2 deficiency: outcome and treatment monitoring

scientific article

Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.

scientific article published on 9 November 2016

Treatment of genetic defects of thiamine transport and metabolism

scientific article published on 18 May 2016

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