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- W2413206409 abstract "Abstract Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild and/or late-onset form (MIM #231680). Here, we report on a GAII patient carrying a homozygous novel c.143_145delAGG (p.Glu48del) mutation in the ETFB gene, who presented with a neonatal-onset form with congenital anomalies and rapidly developed cardiomegaly after birth." @default.
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- W2413206409 date "2015-06-18" @default.
- W2413206409 modified "2023-10-11" @default.
- W2413206409 title "A novel ETFB mutation in a patient with glutaric aciduria type II" @default.
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- W2413206409 doi "https://doi.org/10.1038/hgv.2015.16" @default.
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