Comprehensive overview of the current state and impact of cohort studies in newborn screening
Inborn errors of metabolism (IEM) are a rare and complex group of inherited disorders, typically observed in infants as autosomal recessive or, less commonly, as X-linked recessive conditions. Newborn screening (NBS) for IEMs can significantly improve prognosis and quality of life through early diag...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-07-01
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| Series: | MGM Journal of Medical Sciences |
| Subjects: | |
| Online Access: | https://journals.lww.com/mgmj/fulltext/2024/11030/comprehensive_overview_of_the_current_state_and.21.aspx |
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