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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genet Mol Biol |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Sociedade Brasileira de Genética
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7380325/ https://ncbi.nlm.nih.gov/pubmed/32706845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2019-0298 |
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