{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:19Z","timestamp":1775804779482,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,11,16]],"date-time":"2024-11-16T00:00:00Z","timestamp":1731715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,11,16]],"date-time":"2024-11-16T00:00:00Z","timestamp":1731715200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>This study aims to investigate the clinical, biochemical, and genetic characteristics of Fanconi\u2010Bickel syndrome (FBS) in a cohort of 20 individuals from Palestine and to identify novel pathogenic variants. A retrospective analysis was conducted on medical records from Al\u2010Makassed Hospital's pediatric department spanning 2015 to 2023. Individuals diagnosed with FBS via molecular genetic testing were included in the study. Among the 20 genetically confirmed FBS patients, hepatomegaly was prevalent in 95%, whereas 70% exhibited both developmental delay and hypophosphatemic rickets, and 68.4% experienced growth retardation. Hypertriglyceridemia (HTG) was universal. Elevated liver enzymes and alkaline phosphatase were common, along with hypophosphatemia (95%) and urinary abnormalities. Genetic analysis revealed five distinct SLC2A2 pathogenic variants, including three previously unreported variants: p.Gln23Arg (c.68A\u2009&gt;\u2009G), p.Thr353Arg (c.1058_1059delinsGG), and an exon 7 deletion. This study presents the largest single\u2010center cohort of FBS patients, expanding our understanding of the disorder's phenotypic and genotypic spectrum. Despite FBS generally carrying a favorable prognosis, timely diagnosis remains crucial to prevent severe complications.<\/jats:p>","DOI":"10.1111\/cge.14648","type":"journal-article","created":{"date-parts":[[2024,11,16]],"date-time":"2024-11-16T06:24:48Z","timestamp":1731738288000},"page":"335-340","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic, Clinical, and Biochemical Characterization of\u00a0a Large Cohort of Palestinian Patients With Fanconi\u2010Bickel Syndrome"],"prefix":"10.1111","volume":"107","author":[{"given":"Tamer","family":"Hodrob","sequence":"first","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alaaeddin","family":"Abusalameh","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim","family":"Ismail","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imad","family":"Dweikat","sequence":"additional","affiliation":[{"name":"Metabolic Department Arab American University  Jenin Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah Abu","family":"Rmeilah","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"},{"name":"Department\u00a0of Pediatrics and Genetics Al Makassed Hospital  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mutaz","family":"Sultan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"},{"name":"Department\u00a0of Pediatrics and Genetics Al Makassed Hospital  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam Abu","family":"Libdeh","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"},{"name":"Department\u00a0of Pediatrics and Genetics Al Makassed Hospital  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abd\u2010Al\u2010Salam Abu","family":"Libdeh","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"},{"name":"Department\u00a0of Pediatrics and Genetics Al Makassed Hospital  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaher","family":"Shweiki","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"},{"name":"Department\u00a0of Pediatrics and Genetics Al Makassed Hospital  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadirah","family":"Damseh","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Al\u2010Quds University  East Jerusalem Palestine"},{"name":"Department\u00a0of Pediatrics and Genetics Al Makassed Hospital  East Jerusalem Palestine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,16]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"\u201cChronic Aminoaciduria (Amino Acid Diabetes or Nephrotic\u2010Glucosuric Dwarfism) in Glycogen Storage and Cystine Disease \u201d1949 accessed September 19 2023 https:\/\/pubmed.ncbi.nlm.nih.gov\/15397919\/."},{"key":"e_1_2_11_3_1","first-page":"145","article-title":"Glycogen Storage Diseases","volume":"12","author":"Hug G.","year":"1976","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/S004390051095"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/NG1197\u2010324"},{"key":"e_1_2_11_6_1","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Scriver C. 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