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Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Gene...

Baldo, Manuela Schubert; Nogueira, Célia; Pereira, Cristina; Janeiro, Patrícia; Ferreira, Sara; Lourenço, Charles M.; Bandeira, Anabela

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, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering r...

Date: 2023   |   Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
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