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About 1,498 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  531 results

Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.
https://doi.org/10.1515/jpem-2022-0566
Journal of Pediatric Endocrinology & Metabolism : JPEM; Beyzaei Z, Ezgu F et. al.

Jan 21st, 2023 - Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. Herein we report a 2 year old girl pres...

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...
https://clinicaltrials.gov/ct2/show/NCT03970278

Jan 20th, 2023 - 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.

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9803525
Medicine Liu Q, Yu F et. al.

Jan 4th, 2023 - Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patie...

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Ac...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791005
Annals of Laboratory Medicine; Kim MJ, Kim SY et. al.

Dec 23rd, 2022 - New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical...

Metabolic Myopathies.
https://doi.org/10.1212/CON.0000000000001182
Continuum (Minneapolis, Minn.); Tarnopolsky MA

Dec 21st, 2022 - Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. Impairments in glycogenolysi...

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Guidelines  2 results

Diagnosis and management of glycogen storage disease type I: a practice guideline of th...
https://doi.org/10.1038/gim.2014.128
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.
https://doi.org/10.1097/GIM.0b013e3181e655b6
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  57 results

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...
https://clinicaltrials.gov/ct2/show/NCT03970278

Jan 20th, 2023 - 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.

A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
https://clinicaltrials.gov/ct2/show/NCT05139316

Dec 16th, 2022 - Study DTX401-CL301 is a phase 3, randomized, double-blind, placebo-controlled study to determine the efficacy and confirm the safety of DTX401 in patients 8 years and older with glycogen storage disease type Ia (GSDIa). Participants will be random...

A Study of mRNA-3745 in Participants With Glycogen Storage Disease Type 1a (GSD1a)
https://clinicaltrials.gov/ct2/show/NCT05095727

Nov 25th, 2022 - This is a dose escalation study in adult participants with GSD1a to determine the safety and tolerability of mRNA-3745 and characterize the pharmacokinetic (PK) and pharmacodynamic (PD) response following IV administration of mRNA-3745.

Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)
https://clinicaltrials.gov/ct2/show/NCT03517085

Nov 18th, 2022 - Participants enrolled in the 401GSDIA01 study will be monitored for 52 weeks following DTX401 administration. Participants in Cohorts 1, 2, and 3 will receive reactive oral steroid treatment for possible vector-induced hepatitis following treatmen...

Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Participants With Glycogen Storage Disease Type III
https://clinicaltrials.gov/ct2/show/NCT05196165

Nov 3rd, 2022 - The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric participants with glycogen storage disease type III (GSD III).

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News  6 results

Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease)
https://reference.medscape.com/viewarticle/954078

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...

Tests reveal risk of passing on SCD, other diseases
https://www.mdedge.com/hematology-oncology/article/185547/anemia/tests-reveal-risk-passing-scd-other-diseases
HT Staff

Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.

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Patient Education  3 results see all →