A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

Abstract Background Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mo...

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Bibliographic Details
Main Authors: Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare diseases
Machine learning
Inborn metabolic diseases
Artificial intelligence
Glycogen storage disease
Acylcarnitines
Online Access:https://doi.org/10.1186/s13023-025-03537-2
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