Incidental maternal glutaric aciduria type I detection through newborn screening: A case report
The expansion of newborn screening in France (2023–2025) to include carnitine metabolism disorders has increased false positives, often due to unsuspected maternal metabolic conditions. We report the first french incidental diagnosis of a glutaric acidemia type I in a mother following a low C0 carni...
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| Główni autorzy: | , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Elsevier
2026-03-01
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| Seria: | Molecular Genetics and Metabolism Reports |
| Hasła przedmiotowe: | |
| Dostęp online: | http://www.sciencedirect.com/science/article/pii/S2214426926000121 |
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