Rutten, Martijn G S; Lei, Yu; Hoogerland, Joanne H; Bloks, Vincent W; Yang, Hong; Bos, Trijnie; Krishnamurthy, Kishore A; Bleeker, Aycha; Koster, Mirjam H; Thomas, Rachel E; Wolters, Justina C; van den Bos, Hilda; Mithieux, Gilles; Rajas, Fabienne; Mardinoglu, Adil; Spierings, Diana C J; de Bruin, Alain; van de Sluis, Bart; Oosterveer, Maaike H
(BioMed Central, 2023-04-21)
BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6-phosphatase (G6PC1) activity, which induces severe hepatomegaly and increases the risk for liver cancer. ...