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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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