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Prevalence of the most common pathogenic variants in three genes for inborn err...
Randon,Dévora N.; Sperb-Ludwig,Fernanda; Vianna,Fernanda S. L.; Becker,Ana P. P.; Vargas,Carmen R.; Sitta,Angela; Sant’Ana,Alexia N.; Schwartz,Ida V. D.Abstract Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CTLNI, ASS1 gene), c.1528G>C (LCHADD, HADHA gene), c.655A>T and c.1106G>A (mut0 MMA, MUT gene). Considering the absenc...
Date: 2020
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Origin: Oasisbr