ArticlePediatric endocrinology, diabetes, and metabolism2022
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
Article in Pediatric endocrinology, diabetes, and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- 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
- Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.Paediatric drugs · 2024Pooled it
- Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital.Molecular genetics and metabolism reports · 2026Article
- Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib.JIMD reports · 2026Article
- Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.Molecular diagnosis & therapy · 2025Article
- [Efficacy and safety of empagliflozin in the treatment of glycogen storage disease-associated inflammatory bowel disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- [Application of active glucose monitoring in the perioperative period of gastrointestinal endoscopy in children with glycogen storage disease type Ⅰb].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Clinical features and rare complications in 132 patients with hepatic glycogenosis.Orphanet journal of rare diseases · 2025Article
- Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.JAMA network open · 2025Article
- SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.Scientific reports · 2024Article
- Immune remodulation in pediatric inherited metabolic liver diseases.World journal of hepatology · 2024Review
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10 authors.
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Abstract
Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by a deficiency of microsomal glucose-6-phosphate (G6P) transport protein across the endoplasmic reticulum membrane. Patients with GSD 1b have hypoglycemia episodes, lactate acidosis, hypertriglyceridemia, hypercholesterolemia, hyperuricemia, neutropenia and in imaging studies hepatomegaly and/or nephromegaly. The primary goals of treatment are to maintain proper blood glucose levels and to increase the number of properly functioning neutrophils. The aim of the study was a retrospective analysis of the clinical picture and treatment results of pediatric patients with type 1b glycogen storage disease from Poland. The study included 13 patients from 3 clinical centers, with a median age at diagnosis as 5 months. In 11/13 patients, the diagnosis was confirmed by molecular test, by the presence of pathogenic variants on both alleles of the SLC37A4 gene. Ten out of 13 patients developed the first symptoms in the form of severe infection (sepsis and/or pneumonia) already in the neonatal-infant period. A hypoglycemia episode was observed before diagnosis in 8/13 patients, of which 4/8 patients presented symptoms in the form of generalized relaxation and/or seizures. Two patients developed hypertension, and 4/13 required long-term treatment of inflammatory bowel disease.
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