Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin?

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1.Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turk J Pediatr 2019; 61: 261-266.

2.Rodriguez JJ, Acosta F, Bourgeois L, Dasgupta A. Biotin at high concentration interferes with the LOCI digoxin assay but the PETINIA phenytoin assay is not affected. Ann Clin Lab Sci 2018; 48: 164-167.

3.Finsterer J. Toxicity of antiepileptic drugs to mitochondria. Handb Exp Pharmacol 2017; 240: 473-488.

4.Bhatia KD, Krishnan P, Kortman H, Klostranec J, Krings T. Acute cortical lesions in MELAS syndrome: anatomic distribution, symmetry, and evolution. AJNR Am J Neuroradiol 2020; 41: 167-173.

5.Ganetzky RD, Falk MJ. 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab 2018; 123: 301-308.
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
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