Glycogen Storage Disease Type I - Catalysis

Relevant Publications

A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.

Issue Release: 2024

Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease.

Issue Release: 2024

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

Issue Release: 2024

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Issue Release: 2024

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.

Issue Release: 2024

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.

Issue Release: 2023

Extracellular matrix modulates the spatial hepatic features in hepatocyte-like cells derived from human embryonic stem cells.

Issue Release: 2023

From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1.

Issue Release: 2023

Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center.

Issue Release: 2023

Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition.

Issue Release: 2023

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.

Issue Release: 2023

Gene therapy and genome editing for type I glycogen storage diseases.

Issue Release: 2023

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies.

Issue Release: 2023

Endogenous glucose production in patients with glycogen storage disease type Ia estimated by oral d-[6,6-2H2]-glucose.

Issue Release: 2023

CT findings of glycogen storage disease I complicated with pancreatitis: A case report.

Issue Release: 2023

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib.

Issue Release: 2023

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report.

Issue Release: 2023

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.

Issue Release: 2023

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

Issue Release: 2022

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

Issue Release: 2022

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