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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Bibliographic Details
Main Author: Henriques, Bárbara J. (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2020
Subjects:
Glutaric aciduria type II
Riboflavin Responsive-MADD
Structural Biochemistry
Rare Disease
Inborn Error of Metabolism
Mitochondrial Disease
Newborn Screening
Doenças Genéticas
Portugal
Online Access:http://hdl.handle.net/10400.18/6591
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6591

Internet

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

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