Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

Autor: 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., Bitencourt,Fernanda H. de

Publikováno v: Genetics and Molecular Biology, Volume: 43, Issue: 3, Article number: 20190298, Published: 27 JUL 2020
Genetics and Molecular Biology v.43 n.3 2020
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG

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

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