Cargando…

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

Detalles Bibliográficos
Autores principales: Freitas, Leonardo Furtado, Miranda, Eduardo Carvalho, Noce, Thelma Ribeiro, Amaro, Aline Pimentel, Duarte, Márcio Luís
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Revinter Publicações Ltda. 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689095/
https://www.ncbi.nlm.nih.gov/pubmed/37832600
http://dx.doi.org/10.1055/s-0043-1772606
_version_ 1785152299292688384
author Freitas, Leonardo Furtado
Miranda, Eduardo Carvalho
Noce, Thelma Ribeiro
Amaro, Aline Pimentel
Duarte, Márcio Luís
author_facet Freitas, Leonardo Furtado
Miranda, Eduardo Carvalho
Noce, Thelma Ribeiro
Amaro, Aline Pimentel
Duarte, Márcio Luís
author_sort Freitas, Leonardo Furtado
collection PubMed
description
format Online
Article
Text
id pubmed-10689095
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Thieme Revinter Publicações Ltda.
record_format MEDLINE/PubMed
spelling pubmed-106890952023-12-01 SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease Freitas, Leonardo Furtado Miranda, Eduardo Carvalho Noce, Thelma Ribeiro Amaro, Aline Pimentel Duarte, Márcio Luís Arq Neuropsiquiatr Thieme Revinter Publicações Ltda. 2023-10-13 /pmc/articles/PMC10689095/ /pubmed/37832600 http://dx.doi.org/10.1055/s-0043-1772606 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit ( https://creativecommons.org/licenses/by/4.0/ ) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Freitas, Leonardo Furtado
Miranda, Eduardo Carvalho
Noce, Thelma Ribeiro
Amaro, Aline Pimentel
Duarte, Márcio Luís
SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
title SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
title_full SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
title_fullStr SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
title_full_unstemmed SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
title_short SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease
title_sort scl19a3 gene mutation with leigh-like phenotype presentation: a potentially treatable disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10689095/
https://www.ncbi.nlm.nih.gov/pubmed/37832600
http://dx.doi.org/10.1055/s-0043-1772606
work_keys_str_mv AT freitasleonardofurtado scl19a3genemutationwithleighlikephenotypepresentationapotentiallytreatabledisease
AT mirandaeduardocarvalho scl19a3genemutationwithleighlikephenotypepresentationapotentiallytreatabledisease
AT nocethelmaribeiro scl19a3genemutationwithleighlikephenotypepresentationapotentiallytreatabledisease
AT amaroalinepimentel scl19a3genemutationwithleighlikephenotypepresentationapotentiallytreatabledisease
AT duartemarcioluis scl19a3genemutationwithleighlikephenotypepresentationapotentiallytreatabledisease