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- W4317567084 abstract "Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far.Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene.This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI." @default.
- W4317567084 created "2023-01-21" @default.
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- W4317567084 date "2023-01-23" @default.
- W4317567084 modified "2023-10-18" @default.
- W4317567084 title "Identification of a novel mutation in the <i>ALDOB</i> gene in hereditary fructose intolerance" @default.
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- W4317567084 doi "https://doi.org/10.1515/jpem-2022-0566" @default.
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