about
Thiamine transporter-2 deficiency: outcome and treatment monitoringThe model of Palliative Care in the perinatal setting: a review of the literatureGenetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Ndufs4 related Leigh syndrome: A case report and review of the literature.Treatment of genetic defects of thiamine transport and metabolism.Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseGenetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studiesCerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceFrameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical resultsMutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
P50
Q30832915-9E2E53DE-72D3-4AA6-B6C7-361BCE0A964FQ34191889-4DABFC87-0EC6-4206-AB27-888099E29437Q38754686-38199B67-CE38-42F6-ACBA-D333FE80A78AQ38808445-214BE518-425B-42D9-A0A5-3DF509575182Q38837368-A94494AB-A55C-4D18-ABB9-BE2DB721A5CAQ40068279-3164C9DD-9CFB-47A9-B212-3FC51758350BQ42486103-D1D03E33-51C8-4F6B-BBC8-94207153CA20Q47639205-E8E745EA-12C7-45E6-BAD6-372EBB6593B0Q47879309-AA4C3B2F-00B4-478B-9320-CDFD4F0DD2DBQ48268308-FF3D65D5-C7C9-4554-805F-CE9A2B6EF8D3Q52690210-B5C2B9E7-6FB7-43C4-AFD5-BDDE385B72FDQ61797907-B012161A-83FC-4DE9-974F-91E2774EE1E8Q64039294-0A524F59-E07A-4240-B259-28B6F99D88A5Q89425458-68ECB9FF-DDBF-4D7E-A29E-3BF2A742A4DEQ90361437-2E7589DB-4A61-41D1-BD47-FF0D474C2ED1Q91043711-A9F27CBB-7491-49E0-93E7-80B0078A0516
P50
description
investigador
@es
researcher
@en
name
Darío Ortigoza-Escobar
@en
type
label
Darío Ortigoza-Escobar
@en
prefLabel
Darío Ortigoza-Escobar
@en
P31
P496
0000-0002-6320-2641