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Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene

6 Apr 2023

Abstract excerpt

OBJECTIVES: To investigate whether the lactate dehydrogenase D (LDHD) gene deficiency causes juvenile-onset gout. METHODS: We used whole-exome sequencing for two families and a targeted gene-sequencing panel for an isolated patient. d-lactate dosages were analysed using ELISA. RESULTS: We demonstrated linkage of juvenile-onset gout to homozygous carriage of three rare distinct LDHD variants in three different...

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Share to Gout, Hyperuricemia, Uric Acid
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PMID: 37021930
DOI: 10.1093/rheumatology/kead118

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