ArticleJIMD reports2021
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- 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
- Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.Orphanet journal of rare diseases · 2024Article
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.The Journal of international medical research · 2023Review
- Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.Diabetology & metabolic syndrome · 2023Article
- Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.Orphanet journal of rare diseases · 2022Article
- The overall benefits of empagliflozin treatment in adult siblings with glycogen storage disease type Ib: one year experience.Archives of medical science : AMS · 2022Article
- The natural history of glycogen storage disease type Ib in England: A multisite survey.JIMD reports · 2021Article
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age of 9.1 years (range 1-39 years), were included in the study. We examined the genotype and phenotype of all patients and reported 14 novel alleles. The phenotype of GSDIb in England involves a short fasting tolerance that extends into adulthood and a high prevalence of gastrointestinal symptoms. Growth is difficult to manage and neutropaenia and recurrent infections persist throughout life. Liver transplantation was performed in nine patients, which normalized fasting tolerance but did not correct neutropaenia. This is the first natural history study on the cohort of GSDIb patients in England.
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