Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia

Abstract Glycogen storage disease type Ia (GSDIa) is an inherited disorder of carbohydrate metabolism. Patients present with excessive storage of glycogen and fat in the liver and kidneys and are potentially at risk of developing long-term complications. Currently, the mainstay of treatment is highl...

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Main Authors: Francesca Pirozzi, Ramin Amiri, Camilla Luni, Alessandro Rossi, Daniela Melis, Roberta Fedele, Carmen Rosano, Pietro Strisciuglio, Maaike H. Oosterveer, Terry G. J. Derks, Giancarlo Parenti, Marianna Caterino, Margherita Ruoppolo
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Glycogen storage disease type Ia
Multiomics
Lipid metabolism
Liver injury
Serum biomarkers
ALDOB
Online Access:https://doi.org/10.1038/s41598-025-06272-7
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https://doi.org/10.1038/s41598-025-06272-7

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