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. 2024 Apr;82(4):1-2.
doi: 10.1055/s-0044-1786024. Epub 2024 Apr 12.

The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed

Josef Finsterer  1 , Fulvio A Scorza  2
Affiliations

The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed

Josef Finsterer et al. Arq Neuropsiquiatr. 2024 Apr.
No abstract available

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Conflict of interest statement

There is no conflict of interest to declare.

References

    1. Freitas L F, Miranda E C, Noce T R, Amaro A P, Duarte M L. SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease. Arq Neuropsiquiatr. 2023;81(11):1020–1021. doi: 10.1055/s-0043-1772606. - DOI - PMC - PubMed
    1. Alfadhel M. Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review . J Cent Nerv Syst Dis. 2017;9:1.179573517737521E15. doi: 10.1177/1179573517737521. - DOI - PMC - PubMed
    1. Debs R, Depienne C, Rastetter A et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010;67(01):126–130. doi: 10.1001/archneurol.2009.293. - DOI - PubMed
    1. Alfadhel M, Tabarki B. SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. Neuropediatrics. 2018;49(02):83–92. doi: 10.1055/s-0037-1607191. - DOI - PubMed

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