Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiolo...

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Detalles Bibliográficos
Autores principales: Baldo, Manuela Schubert, Nogueira, Célia, Pereira, Cristina, Janeiro, Patrícia, Ferreira, Sara, Lourenço, Charles M., Bandeira, Anabela, Martins, Esmeralda, Magalhães, Marina, Rodrigues, Esmeralda, Santos, Helena, Ferreira, Ana Cristina, Vilarinho, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454233/
https://www.ncbi.nlm.nih.gov/pubmed/37628588
http://dx.doi.org/10.3390/genes14081536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454233/
https://www.ncbi.nlm.nih.gov/pubmed/37628588
http://dx.doi.org/10.3390/genes14081536

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