ReviewTranslational pediatrics2015
Investigation and management of the hepatic glycogen storage diseases.
Review in Translational pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.Orphanet journal of rare diseases · 2020Pooled it
- Association of the children's dietary inflammatory index (c-DII) with thiol/disulfide homeostasis in pediatric glycogen storage disease: a cross-sectional exploratory study.Frontiers in nutrition · 2026Article
- Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle.Clinical case reports · 2026Article
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.Orphanet journal of rare diseases · 2025Article
- Identification of Potential Therapeutic Targets Against Anthrax-Toxin-Induced Liver and Heart Damage.Toxins · 2025Article
- A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.BMC medical genomics · 2024Article
- Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.Genes · 2023Article
- Article
- French recommendations for the management of glycogen storage disease type III.European journal of medical research · 2023Review
- Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders.World journal of gastroenterology · 2023Review
- Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa.Molecular genetics and metabolism reports · 2022Article
- Development of minimally invasiveMolecular genetics and metabolism reports · 2022Article
- Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022Review
- Ketotic hypoglycemia in patients with Down syndrome.JIMD reports · 2021Article
- PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.American journal of medical genetics. Part A · 2021Article
- Article
- Age- and duration-dependent effects of whey protein on high-fat diet-induced changes in body weight, lipid metabolism, and gut microbiota in mice.Physiological reports · 2020Article
- Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.JIMD reports · 2020Article
- Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies.Advances in nutrition (Bethesda, Md.) · 2020Review
- Non-traumatic and non-drug-induced rhabdomyolysis.Archives of medical sciences. Atherosclerotic diseases · 2019Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The glycogen storage diseases (GSD) comprise a group of disorders that involve the disruption of metabolism of glycogen. Glycogen is stored in various organs including skeletal muscle, the kidneys and liver. The liver stores glycogen to supply the rest of the body with glucose when required. Therefore, disruption of this process can lead to hypoglycaemia. If glycogen is not broken down effectively, this can lead to hepatomegaly. Glycogen synthase deficiency leads to impaired glycogen synthesis and consequently the liver is small. Glycogen brancher deficiency can lead to abnormal glycogen being stored in the liver leading to a quite different disorder of progressive liver dysfunction. Understanding the physiology of GSD I, III, VI and IX guides dietary treatments and the provision of appropriate amounts and types of carbohydrates. There has been recent re-emergence in the literature of the use of ketones in therapy, either in the form of the salt D,L-3-hydroxybutyrate or medium chain triglyceride (MCT). High protein diets have also been advocated. Alternative waxy maize based starches seem to show promising early data of efficacy. There are many complications of each of these disorders and they need to be prospectively surveyed and managed. Liver and kidney transplantation is still indicated in severe refractory disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.