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About 2,147 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  1,065 results

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.
https://doi.org/10.1016/j.yebeh.2021.107975
Epilepsy & Behavior : E&B; Markussen KH, Macedo JKA et. al.

May 4th, 2021 - Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies...

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and liter...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078372
Medicine Zhan Q, Lv Z et. al.

Apr 21st, 2021 - Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver fu...

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and g...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8050929
BMC Pediatrics; Beyzaei Z, Ezgu F et. al.

Apr 16th, 2021 - Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping mani...

A retrospective in-depth analysis of continuous glucose monitoring datasets for patient...
https://doi.org/10.1002/jimd.12383
Journal of Inherited Metabolic Disease; Peeks F, Hoogeveen IJ et. al.

Apr 9th, 2021 - Continuous glucose monitoring (CGM) systems have great potential for real-time assessment of glycaemic variation in patients with hepatic glycogen storage disease (GSD). However, detailed descriptions and in-depth analysis of CGM data from hepatic...

Type la glycogen storage disease complicated with diabetes mellitus: the role of flash ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8006771
BMJ Case Reports; Marcalo J, Oliveira A et. al.

Mar 26th, 2021 - A 22-year-old woman with type Ia glycogen storage disease was referred to the endocrinology department with new-onset diabetes mellitus-glycated haemoglobin (HbA1c) of 8.2%. She had suffered from repeated bouts of hypoglycaemia since the first day...

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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 C... 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 C... 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  1,073 results

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.
https://doi.org/10.1016/j.yebeh.2021.107975
Epilepsy & Behavior : E&B; Markussen KH, Macedo JKA et. al.

May 4th, 2021 - Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies...

Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and liter...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078372
Medicine Zhan Q, Lv Z et. al.

Apr 21st, 2021 - Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver fu...

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and g...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8050929
BMC Pediatrics; Beyzaei Z, Ezgu F et. al.

Apr 16th, 2021 - Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be difficult because of overlapping mani...

A retrospective in-depth analysis of continuous glucose monitoring datasets for patient...
https://doi.org/10.1002/jimd.12383
Journal of Inherited Metabolic Disease; Peeks F, Hoogeveen IJ et. al.

Apr 9th, 2021 - Continuous glucose monitoring (CGM) systems have great potential for real-time assessment of glycaemic variation in patients with hepatic glycogen storage disease (GSD). However, detailed descriptions and in-depth analysis of CGM data from hepatic...

Type la glycogen storage disease complicated with diabetes mellitus: the role of flash ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8006771
BMJ Case Reports; Marcalo J, Oliveira A et. al.

Mar 26th, 2021 - A 22-year-old woman with type Ia glycogen storage disease was referred to the endocrinology department with new-onset diabetes mellitus-glycated haemoglobin (HbA1c) of 8.2%. She had suffered from repeated bouts of hypoglycaemia since the first day...

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 →