Publications by authors named "Alaaeddin Abusalameh"
Article Synopsis
- - The study examines the characteristics of Fanconi-Bickel syndrome (FBS) in 20 patients from Palestine, focusing on clinical, biochemical, and genetic aspects, based on records from 2015 to 2023.
- - Key findings indicate high prevalence rates of hepatomegaly (95%), developmental delays (70%), and universal hypertriglyceridemia, along with genetic analysis identifying five new SLC2A2 pathogenic variants, including three that were previously unreported.
- - This research represents the largest single-center analysis of FBS, enhancing understanding of its symptoms and genetic variants, with a strong emphasis on the importance of early diagnosis to avoid severe health issues despite a generally favorable prognosis.
