FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

BACKGROUND: Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. Recently, riboflavin transporter genes and the mitochondrial FAD transporter gene have also been assoc...

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Detalles Bibliográficos
Autores principales: Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732309/
https://www.ncbi.nlm.nih.gov/pubmed/31392824
http://dx.doi.org/10.1002/mgg3.915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732309/
https://www.ncbi.nlm.nih.gov/pubmed/31392824
http://dx.doi.org/10.1002/mgg3.915

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