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About 2,059 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  1,021 results

Pulmonary glycogen deficiency as a new potential cause of Respiratory Distress Syndrome.
https://doi.org/10.1093/hmg/ddaa249
Human Molecular Genetics; Testoni G, Olmeda B et. al.

Nov 21st, 2020 - The glycogenin knockout (Gyg KO) mouse is a model of Glycogen Storage Disease type XV. These animals show high perinatal mortality (90%) due to respiratory failure. The lungs of glycogenin-deficient embryos and P0 mice had a lower glycogen content...

A case report of acute pancreatitis with glycogen storage disease type IA in an adult p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571931
Medicine Ai J, He W et. al.

Oct 21st, 2020 - Glycogen storage disease type IA (GSD IA) is an inherited disorder of glycogen metabolism characterized by fasting hypoglycemia, hyperuricemia, and hyperlipidemia including hypertriglyceridemia (HTG). Patients have a higher risk of developing acut...

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical sympto...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557034
Orphanet Journal of Rare Diseases; Beyzaei Z, Geramizadeh B et. al.

Oct 15th, 2020 - Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are di...

Long-term outcome after liver transplantation in children with type 1 glycogen storage ...
https://doi.org/10.1111/petr.13872
Pediatric Transplantation REFERENCES; Yuen WY, Quak SH et. al.

Oct 12th, 2020 - Patients with GSD type 1 (von Gierke disease) are initially managed medically to maintain normoglycemia. However, if they do not achieve good metabolic control, LT is then considered. We describe the long-term outcome of 6 children with GSD type 1...

Reference values for the 12 minute walk test in McArdle patients.
https://doi.org/10.1016/j.nmd.2020.08.361
Neuromuscular Disorders : NMD; Pattni J, Godfrey R et. al.

Sep 23rd, 2020 - The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disease type V (GSDV). Age, height, body mass and gender are known predictors of walking distance in other patie...

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Guidelines  4 results

Diagnosis and management of glycogen storage diseases type VI and IX
https://www.acmg.net/PDFLibrary/Diagnosis%20and%20Management%20of%20Glycogen%20Stored%20Diseases%20type%20VI%20and%20IX%20a%20practice%20resource%20of%20ACMG.pdf

Jan 18th, 2019 - Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene.

The Health Impact of Nighttime Eating: Old and New Perspectives
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425165/
Nutrients Kinsey,A.,et al

Apr 6th, 2015 - Nighttime eating, particularly before bed, has received considerable attention. Limiting and/or avoiding food before nighttime sleep has been proposed as both a weight loss strategy and approach to improve health and body composition. Indeed, nega...

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 College of Medical Genetics; Kishnani PS, Austin SL et. al.

Oct 30th, 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 College of Medical Genetics; Kishnani PS, Austin SL et. al.

Jul 15th, 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  1,029 results

Pulmonary glycogen deficiency as a new potential cause of Respiratory Distress Syndrome.
https://doi.org/10.1093/hmg/ddaa249
Human Molecular Genetics; Testoni G, Olmeda B et. al.

Nov 21st, 2020 - The glycogenin knockout (Gyg KO) mouse is a model of Glycogen Storage Disease type XV. These animals show high perinatal mortality (90%) due to respiratory failure. The lungs of glycogenin-deficient embryos and P0 mice had a lower glycogen content...

A case report of acute pancreatitis with glycogen storage disease type IA in an adult p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571931
Medicine Ai J, He W et. al.

Oct 21st, 2020 - Glycogen storage disease type IA (GSD IA) is an inherited disorder of glycogen metabolism characterized by fasting hypoglycemia, hyperuricemia, and hyperlipidemia including hypertriglyceridemia (HTG). Patients have a higher risk of developing acut...

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical sympto...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557034
Orphanet Journal of Rare Diseases; Beyzaei Z, Geramizadeh B et. al.

Oct 15th, 2020 - Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are di...

Long-term outcome after liver transplantation in children with type 1 glycogen storage ...
https://doi.org/10.1111/petr.13872
Pediatric Transplantation REFERENCES; Yuen WY, Quak SH et. al.

Oct 12th, 2020 - Patients with GSD type 1 (von Gierke disease) are initially managed medically to maintain normoglycemia. However, if they do not achieve good metabolic control, LT is then considered. We describe the long-term outcome of 6 children with GSD type 1...

Reference values for the 12 minute walk test in McArdle patients.
https://doi.org/10.1016/j.nmd.2020.08.361
Neuromuscular Disorders : NMD; Pattni J, Godfrey R et. al.

Sep 23rd, 2020 - The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disease type V (GSDV). Age, height, body mass and gender are known predictors of walking distance in other patie...

see more →

News  3 results

The Health Impact of Nighttime Eating: Old and New Perspectives
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425165/
Nutrients Kinsey,A.,et al

Apr 6th, 2015 - Nighttime eating, particularly before bed, has received considerable attention. Limiting and/or avoiding food before nighttime sleep has been proposed as both a weight loss strategy and approach to improve health and body composition. Indeed, nega...

Update: Radiologic-Pathologic Correlation of Hepatocellular Adenoma
https://www.medscape.com/viewarticle/922023

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 →