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Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review

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...

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Bibliografiske detaljer
Udgivet i:Clin Rheumatol
Main Authors: Zhang, Bingqing, Zeng, Xuejun
Format: Artigo
Sprog:Inglês
Udgivet: Springer London 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5063890/
https://ncbi.nlm.nih.gov/pubmed/27139513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10067-016-3290-1
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