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About 2,044 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  1,015 results

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...

A novel recurrent 3.6-kb deletion in the PYGL gene contributes to glycogen storage dise...
https://doi.org/10.1016/j.jmoldx.2020.08.006
The Journal of Molecular Diagnostics : JMD; Liu B, Wu B et. al.

Sep 22nd, 2020 - The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated hepatic transaminases, and hypoglycemia. We performed extended b...

The Echogenic Liver: Steatosis and Beyond.
https://doi.org/10.1097/RUQ.0000000000000510
Ultrasound Quarterly; Wu M, Sharma PG et. al.

Sep 21st, 2020 - Ultrasound is the most common modality used to evaluate the liver. An echogenic liver is defined as increased echogenicity of the liver parenchyma compared with the renal cortex. The prevalence of echogenic liver is approximately 13% to 20%. In mo...

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with G...
https://doi.org/10.1515/jpem-2020-0173
Journal of Pediatric Endocrinology & Metabolism : JPEM; Lu SQ, Feng JY et. al.

Sep 6th, 2020 - Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population.  Methods We retrospectively analyzed ten Chinese children diagnosed...

Improved inflammatory bowel disease, wound healing and normal oxidative burst under tre...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446198
Orphanet Journal of Rare Diseases; Grünert SC, Elling R et. al.

Aug 25th, 2020 - Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil dysfunction causi...

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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  1,021 results

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...

A novel recurrent 3.6-kb deletion in the PYGL gene contributes to glycogen storage dise...
https://doi.org/10.1016/j.jmoldx.2020.08.006
The Journal of Molecular Diagnostics : JMD; Liu B, Wu B et. al.

Sep 22nd, 2020 - The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated hepatic transaminases, and hypoglycemia. We performed extended b...

The Echogenic Liver: Steatosis and Beyond.
https://doi.org/10.1097/RUQ.0000000000000510
Ultrasound Quarterly; Wu M, Sharma PG et. al.

Sep 21st, 2020 - Ultrasound is the most common modality used to evaluate the liver. An echogenic liver is defined as increased echogenicity of the liver parenchyma compared with the renal cortex. The prevalence of echogenic liver is approximately 13% to 20%. In mo...

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with G...
https://doi.org/10.1515/jpem-2020-0173
Journal of Pediatric Endocrinology & Metabolism : JPEM; Lu SQ, Feng JY et. al.

Sep 6th, 2020 - Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population.  Methods We retrospectively analyzed ten Chinese children diagnosed...

Improved inflammatory bowel disease, wound healing and normal oxidative burst under tre...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446198
Orphanet Journal of Rare Diseases; Grünert SC, Elling R et. al.

Aug 25th, 2020 - Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil dysfunction causi...

see more →

News  2 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...

see more →

Patient Education  2 results see all →