Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

(2015) Daniela Melis et al.   Orphanet Journal of Rare Diseases

Endogenous glucose production from infancy to adulthood: a non-linear regression model

(2014) H. H. Huidekoper et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

(2014) Priya S. Kishnani et al.   GENETICS IN MEDICINE

Hepatic glucose sensing and integrative pathways in the liver

(2013) Maaike H. Oosterveer et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Natural History of Hepatocellular Adenoma Formation in Glycogen Storage Disease Type I

(2011) David Q. Wang et al.   JOURNAL OF PEDIATRICS

Glucose-6-phosphatase deficiency

(2011) Roseline Froissart et al.   Orphanet Journal of Rare Diseases

An adult male patient with multiple adenomas and a hepatocellular carcinoma: Mild Glycogen Storage Disease type Ia

(2010) David Cassiman et al.   JOURNAL OF HEPATOLOGY

Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

(2008) Janice Y. Chou et al.   HUMAN MUTATION