Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency

Background: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with broad clinical phenotypes and variable evolution. This inborn error of metabolism is caused by mutations in the ETFA, ETFB or ETFDH genes, which encode for the mitochondrial ETF and ETF:QO prote...

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Detalhes bibliográficos
Autor principal: Henriques, Bárbara J. (author)
Outros Autores: Lucas, Tânia G. (author), Martins, Esmeralda (author), Gaspar, Ana (author), Bandeira, Anabela (author), Nogueira, Célia (author), Brandão, Otilia (author), Rocha, Hugo (author), Vilarinho, Laura (author), Gomes, Cláudio M. (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Glutaric aciduria type II
Riboflavin Responsive-MADD
Structural Biochemistry
Rare Disease
Inborn Error of Metabolism
Mitochondrial Disease
Newborn Screening
Doenças Genéticas
Portugal
Texto completo:http://hdl.handle.net/10400.18/6591
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6591

Texto Completo

http://hdl.handle.net/10400.18/6591

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