Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

Abstract. Objectives:. To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods:. This was an observational cross-sectional study with a conven...

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Bibliographic Details
Main Authors: Mariana Lopes dos Santos, Dévora Natalia Randon, Fernanda Hendges de Bitencourt, Fernanda Sperb-Ludwig, Fernanda Sales Luiz Vianna, Carmen Regla Vargas, Angela Sitta, Ida Vanessa Doederlein Schwartz, Yong-Qing Zhu
Format: Article
Language:English
Published: Wolters Kluwer Health/LWW 2022-06-01
Series:Reproductive and Developmental Medicine
Online Access:http://journals.lww.com/10.1097/RD9.0000000000000021

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http://journals.lww.com/10.1097/RD9.0000000000000021

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