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

Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut(0) methylmalonic acidemia (mut(0) MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CT...

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Detalles Bibliográficos
Autores principales: 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., de Bitencourt, Fernanda H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7380325/
https://www.ncbi.nlm.nih.gov/pubmed/32706845
http://dx.doi.org/10.1590/1678-4685-GMB-2019-0298

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