ReviewNature reviews. Disease primers2023
Glycogen storage diseases.
Review in Nature reviews. Disease primers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
58 citing papers in PubMed, 2 syntheses or guidelines pooled it, 82 citations in OpenAlex.
- Safety of SGLT-2 inhibitors in patients with glycogen storage disease type Ib and their efficacy in treating disease-associated digestive symptoms and disorders.Acta diabetologica · 2026Pooled it
- Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications.Reviews in endocrine & metabolic disorders · 2024Pooled it
- Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management.Heart failure reviews · 2026Review
- Article
- Modular Molecular Design and Self-Assembled Nanostructures of Saccharide‑Appended Cyclic Dipeptides for Glycosidase‑Responsive Supramolecular Hydrogels.Small (Weinheim an der Bergstrasse, Germany) · 2026Article
- Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study.Nutrients · 2026Article
- Glycogen and Glycosylation: Friends or Foes?Biomolecules · 2026Review
- Successful surgical management of multiple hepatocellular adenomas in a young female patient with glycogen storage disease type Ia: a case report.Journal of medical case reports · 2026Article
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- Continuous Glucose Monitoring-Driven Personalization of Cornstarch Therapy in Glycogen Storage Disease: A Retrospective Analysis.Yonsei medical journal · 2026Article
- Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.Medicine · 2026Article
- Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.Translational research : the journal of laboratory and clinical medicine · 2026Article
- RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.Orphanet journal of rare diseases · 2026Article
- Epigallocatechin gallate prevents and alleviates type 2 diabetes mellitus (T2DM) through gut microbiota and multi-organ interactions in Wistar healthy rats and GK T2DM rats.Journal of advanced research · 2026Article
- Feeding-regulated glycogen metabolism drives rhythmic liver protein secretion.Nature metabolism · 2026Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy.Iranian journal of child neurology · 2026Review
- Energy metabolism dysregulation in idiopathic inflammatory myopathies: mechanisms and therapeutic implications.Frontiers in immunology · 2026Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management. Diagnostic considerations include phenotypic characterization, biomarkers, imaging, genetic testing, enzyme activity analysis and histology. Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in several hepatic GSDs, medically prescribed diets, appropriate exercise regimens and emergency letters. Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural history of GSDs is still being described. The quality of life of patients with these conditions varies, and standard sets of patient-centred outcomes have not yet been developed. The landscape of novel therapeutics and GSD clinical trials is vast, and emerging research is discussed herein.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.