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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Hlavní autoři:	Pierre-Edouard Grillet, Cecilia Marelli, Etienne Mondésert, Marie-Céline Francois-Heude, Agathe Roubertie, Frédérique Sabourdy, Jean-Paul Cristol, Cécile Acquaviva, Stéphanie Badiou
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2026-03-01
Edice:	Molecular Genetics and Metabolism Reports
Témata:	Newborn screening Glutaric aciduria type I Incidental diagnosis
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2214426926000121
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