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Lista de obras de Darío Ortigoza-Escobar

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Thiamine transporter-2 deficiency: outcome and treatment monitoring

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Treatment of genetic defects of thiamine transport and metabolism

artículo científico publicado en 2016

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