First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant

Abstract Background Glutaric acidemia type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited error of amino acid and fatty acid metabolism. Its clinical manifestations can vary from severe events that threaten the life of a newborn to milder and late mani...

Olles dieđut

Bibliográfalaš dieđut

Váldodahkkit:	Farshid Parvini, Mobarakeh Ajam-Hosseini, Marziyeh Shadpour
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	BMC 2025-11-01
Ráidu:	Orphanet Journal of Rare Diseases
Fáttát:	ETFA gene Glutaric acidemia type II Neonatal-onset Hypoglycemia Acidosis Iran
Liŋkkat:	https://doi.org/10.1186/s13023-025-04107-2
Fáddágilkorat:	Lasit fáddágilkoriid Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!