ArticleDiagnostics (Basel, Switzerland)2020
Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience.
Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Pooled it
- RNA sequencing resolves a novel noncanonical splice-region variant inTranslational pediatrics · 2026Article
- [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
- Efficacy of magnetic resonance imaging in managing glycogen storage disease.Orphanet journal of rare diseases · 2025Article
- Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.Nature communications · 2024Article
- Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.Reviews in endocrine & metabolic disorders · 2024Review
- The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.Diagnostics (Basel, Switzerland) · 2024Review
- Clinical and genetic spectrum of GSD type 6 in Korea.Orphanet journal of rare diseases · 2023Article
- Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.Orphanet journal of rare diseases · 2022Review
- Review
- Minimally invasive surgery for glycogen storage disease combined with inflammatory bowel disease: A case report.World journal of clinical cases · 2021Article
- Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.Diagnostics (Basel, Switzerland) · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX-from childhood to adulthood, managed by one referral center. PATIENTS AND
methodsThirty adult patients with hepatic GSD were included in the study. A retrospective chart review of patients' medical records has been performed.
resultsDuring the long-term follow-up, the most frequent complications observed in a group of 14 GSD I patients were nephropathy with blood hypertension (10/14), hyperuricemia (8/14), and development of hepatocellular adenomas (HCA; 5/14). All individuals but four presented with normal height. Two patients with GSD Ib suffered from inflammatory bowel disease (IBD). Nine (64%) GSD I patients were in balanced metabolic condition at the age of 18. Regarding GSD III/VI/IX, the most frequent complication was short stature observed in 5 out of 16 patients. All patients but one with GSD VI were in balanced metabolic condition at the age of 18.
conclusionThe long-term outcomes of patients with GSD depend mainly on proper (adjusted to each type of GSD) dietary management and patient compliance. However, in GSD type I, even proper management does not eliminate all long-term complications in adulthood.
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