{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T05:11:13Z","timestamp":1755839473215},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0566_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0566_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Herein we report a 2\u00a0year 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 <jats:italic>ALDOB<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0566_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This report introduces a novel variant that expands the mutational spectrum of the <jats:italic>ALDOB<\/jats:italic> gene in patients with HFI.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0566","type":"journal-article","created":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T07:47:48Z","timestamp":1674200868000},"page":"331-334","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel mutation in the <i>ALDOB<\/i> gene in hereditary fructose intolerance"],"prefix":"10.1515","volume":"36","author":[{"given":"Zahra","family":"Beyzaei","sequence":"first","affiliation":[{"name":"Shiraz Transplant Research Center (STRC) , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Genetics , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Hadi","family":"Imanieh","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Research Center , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"Haghighat","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Research Center , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Mohsen","family":"Dehghani","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Research Center , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naser","family":"Honar","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hepatology Research Center , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bita","family":"Geramizadeh","sequence":"additional","affiliation":[{"name":"Shiraz Transplant Research Center (STRC) , Shiraz University of Medical Sciences , Shiraz , Iran"},{"name":"Department of Pathology , Shiraz University of Medical Sciences , Shiraz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,1,23]]},"reference":[{"key":"2023033123251286385_j_jpem-2022-0566_ref_001","doi-asserted-by":"crossref","unstructured":"Singh, SK, Sarma, MS. Hereditary fructose intolerance: a comprehensive review. World J Clin Pediatr 2022;11:321\u20139. https:\/\/doi.org\/10.5409\/wjcp.v11.i4.321.","DOI":"10.5409\/wjcp.v11.i4.321"},{"key":"2023033123251286385_j_jpem-2022-0566_ref_002","doi-asserted-by":"crossref","unstructured":"Bouteldja, N, Timson, DJ. The biochemical basis of hereditary fructose intolerance. J Inherit Metab Dis 2010;33:105\u201312. https:\/\/doi.org\/10.1007\/s10545-010-9053-2.","DOI":"10.1007\/s10545-010-9053-2"},{"key":"2023033123251286385_j_jpem-2022-0566_ref_003","doi-asserted-by":"crossref","unstructured":"Debray, FG, Seyssel, K, Fadeur, M, Tappy, L, Paquot, N, Tran, C. Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance. 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Am J Med Genet A 2017;173:501\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.38023.","DOI":"10.1002\/ajmg.a.38023"},{"key":"2023033123251286385_j_jpem-2022-0566_ref_008","doi-asserted-by":"crossref","unstructured":"Tang, M, Chen, X, Ni, Q, Lu, Y, Wu, B, Wang, H, et al.. Estimation of hereditary fructose intolerance prevalence in the Chinese population. Orphanet J Rare Dis 2022;17:326. https:\/\/doi.org\/10.1186\/s13023-022-02487-3.","DOI":"10.1186\/s13023-022-02487-3"},{"key":"2023033123251286385_j_jpem-2022-0566_ref_009","doi-asserted-by":"crossref","unstructured":"Beyzaei, Z, Geramizadeh, B, Karimzadeh, S. Diagnosis of hepatic Glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature. 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