A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns

A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns

Background: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to inves...

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Bibliographic Details
Main Authors: Takanori Onuki, Shota Hiroshima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Keisuke Nagasaki, Hiromi Nyuzuki
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Children
Subjects:
newborn screening
maternal inborn errors of metabolism
primary systemic carnitine deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
false-positive newborn screening
Online Access:https://www.mdpi.com/2227-9067/10/8/1341

Internet

https://www.mdpi.com/2227-9067/10/8/1341

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