Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the diagnosis rate for this highly heterogeneous allelic...

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Detalles Bibliográficos
Autores principales: Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912785/
https://www.ncbi.nlm.nih.gov/pubmed/31683770
http://dx.doi.org/10.3390/jcm8111811

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912785/
https://www.ncbi.nlm.nih.gov/pubmed/31683770
http://dx.doi.org/10.3390/jcm8111811

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