ReviewClinical rheumatology2016
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
Review in Clinical rheumatology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 36 citations in OpenAlex.
- A glycogen storage disease type 1a patient with type 2 diabetes.BMC medical genomics · 2022Article
- Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.Arthritis research & therapy · 2022Review
- Yap signalling regulates ductular reactions in mice with CRISPR/Cas9-induced glycogen storage disease type Ia.Animal cells and systems · 2022Article
- A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.Molecular genetics & genomic medicine · 2021Article
- A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature.Medicine · 2020Review
- Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).Clinical rheumatology · 2019Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A young female with recurrent tophaceous gout and infertility presented to our clinic. On clinical evaluation, hypoglycaemia, hypertriglyceridaemia, lactic acidosis, and hepatomegaly were noted. Targeted gene sequencing revealed a novel composite heterozygous c.190G>T/c.508C>T mutation in the G6PC gene of the patient, leading to a diagnosis of glycogen storage disease type Ia. Her father possessed a heterozygous c.190G>T mutation, and her mother possessed a heterozygous c.508C>T mutation. A search of the previous literature revealed 16 reported cases of glycogen storage disease type Ia with gout. Here, we describe a female patient with gout, review previous cases, and discuss the mechanisms of gout and hyperuricaemia in glycogen storage disease type Ia.
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Registered trials
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