SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease-Reference-Cited by-同舟云学术

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SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease

Published:2023-10-13 Issue:11 Volume:81 Page:1020-1021
ISSN:0004-282X
Container-title:Arquivos de Neuro-Psiquiatria
language:en
Short-container-title:Arq Neuropsiquiatr

Author:

Freitas Leonardo Furtado¹^ORCID,Miranda Eduardo Carvalho²^ORCID,Noce Thelma Ribeiro³⁴^ORCID,Amaro Aline Pimentel²^ORCID,Duarte Márcio Luís⁵^ORCID

Affiliation:

1. McGill University, Department of Radiology, Division of Neuroradiology, Montreal QC, Canada.

2. Rede MaterDei de Saúde, Departamento de Neurorradiologia, Belo Horizonte MG, Brazil.

3. Rede MaterDei de Saúde, Departamento de Neurologia Infantil, Belo Horizonte MG, Brazil.

4. Hospital Felício Rocho, Belo Horizonte MG, Brazil.

5. Universidade de Ribeirão Preto, Campus Guarujá, Guarujá SP, Brazil.

Publisher

Georg Thieme Verlag KG

Subject

Neurology,Neurology (clinical)

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1772606.pdf

Reference2 articles.

1. Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease;T B Haack;Brain,2014

2. Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review;M Alfadhel;J Cent Nerv Syst Dis,2017

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed;Arquivos de Neuro-Psiquiatria;2024-04

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