About 1,150 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  433 results

Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequenci...
European Journal of Medical Genetics; Steg Saban O, Pode-Shakked B et. al.

May 14th, 2022 - Avoidance of fasting and regular ingestion of uncooked-cornstarch have long been the mainstay dietary treatment of Glycogen Storage Disease type Ia (GSD-Ia). However, GSD-Ia patients who despite optimal dietary treatment show poor glycemic control...

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an ...
Genetics in Medicine : Official Journal of the American C... Grünert SC, Derks TGJ et. al.

May 4th, 2022 - This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). This is an international retrospective questionnaire study on the safety and e...

Type V Glycogen Storage Disease

May 2nd, 2022 - Practice Essentials A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues....

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Guidelines  2 results

Diagnosis and management of glycogen storage disease type I: a practice guideline of th...
Genetics in Medicine : Official Journal of the American C... Kishnani PS, Austin SL et. al.

Oct 31st, 2014 - Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal ...

Glycogen storage disease type III diagnosis and management guidelines.
Genetics in Medicine : Official Journal of the American C... Kishnani PS, Austin SL et. al.

Jul 16th, 2010 - Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra...

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Clinicaltrials.gov  20 results

Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III)

Apr 28th, 2022 - This study is a phase 1/2 first-in-human (FIH), 2-part study to evaluate the safety, tolerability, and pharmacokinetic (PK) of a single ascending dose (SAD; part 1) and repeat doses (RD; part 2) of UX053 in patients with GSD III. Single SAD and RD...

Long-Term Follow-up to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Di...

Apr 18th, 2022 - Only participants who received DTX401 in study 401GSDIA01 (NCT03517085) are eligible to participate in study 401GSDIA02. No investigational product will be administered during study 401GSDIA02.

Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I

Dec 15th, 2021 - Prior to first study appointment: A medical record review will be done prior to the appointment to confirm the diagnosis of GSD I. For interested subjects who are not already known to the investigators (i.e., patients of the Duke University Medica...

Prospective Cohort Study of Children With GSD1b Receiving Empagliflozin

Aug 16th, 2021 - Glycogen Storage Disease Type 1b (GSD1b) is an ultra-rare inborn error of carbohydrate metabolism, characterized by low neutrophil count, neutrophil dysfunction, and the associated recurrent infections and inflammatory bowel conditions. The curren...

Safety and Efficacy of Empagliflozin in GSD1b Patients With Neutropenia

Jun 23rd, 2021 - Symptoms of glycogen storage disease type Ib (GSD Ib) include - among others - hypoglycemia, hepatomegaly and neutropenia with concomitant neutrophil dysfunction, which results in recurrent bacterial and fungal infections, and inflammatory bowel d...

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News  3 results

Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease)

Aug 6th, 2021 - Glycogen storage disease type II, also called Pompe disease, is a rare, progressive, genetic condition in which there is an accumulation of glycogen, a source of energy for the body, inside the lysosomes of cells. This occurs due to mutations in t...

Update: Radiologic-Pathologic Correlation of Hepatocellular Adenoma

Abstract and Introduction Introduction Hepatocellular adenoma (HA) is a relatively uncommon benign liver neoplasm that is typically seen in obese women of childbearing age who are on long-term oral contraceptives.[1] It is also reported to occur i...

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Patient Education  2 results see all →