Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
about
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia EncephalopathyTreatment of genetic defects of thiamine transport and metabolism.Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Treatable mitochondrial diseases: cofactor metabolism and beyond.Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.
P2860
Q28550077-112966B6-B84F-4A29-B08F-E245CEB65F73Q38837368-A22599C7-7D84-44F0-8D9C-E9C753E08EDDQ45965170-B6ADC71D-E909-4855-B2B3-33F5C05F1D5CQ47139687-5C73D000-95FE-4820-875B-015B4B3EAF22Q47879309-BAA93E79-5E84-466C-B6C2-4485BC7D0FC8Q48390229-FA57090B-2CF7-4000-BEDE-A1A11A9D1E58Q52086538-E72E7DAF-4A38-4ADF-ACCB-1B722EB77A56
P2860
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
description
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Free-thiamine is a potential b ...... table cause of Leigh syndrome.
@en
Free-thiamine is a potential b ...... table cause of Leigh syndrome.
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label
Free-thiamine is a potential b ...... table cause of Leigh syndrome.
@en
Free-thiamine is a potential b ...... table cause of Leigh syndrome.
@nl
prefLabel
Free-thiamine is a potential b ...... table cause of Leigh syndrome.
@en
Free-thiamine is a potential b ...... table cause of Leigh syndrome.
@nl
P2093
P2860
P50
P356
P1433
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Free-thiamine is a potential b ...... table cause of Leigh syndrome.
@en
P2093
Angela Arias
Angels Garcia-Cazorla
Antonia Ribes
Judit Garcia-Villoria
Laura Gort
Marta Molero-Luis
María Hernández
Mercedes Casado
Niklas Darín
Pilar Rodríguez-Pombo
P2860
P356
10.1093/BRAIN/AWV342
P407
P50
P577
2015-12-10T00:00:00Z