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- W2891180241 abstract "This chapter reviews the epidemiology, clinical course, genetics, and practical aspects of Wilson disease (WD) in Israel and the surroundings including Egypt, Iran, Lebanon, and Saudi Arabia. WD incidence in Israel is 1:3000–1:40,000, highest among the Druze. Dominance of liver disease was found among the Druze and Arabs, and neuropsychiatric phenotype dominance among Ashkenazi Jews; Sephardic Jews occasionally presented with hematologic, renal, or endocrine disorders. Genetic analysis demonstrated a few common mutations including M645R and c.3648del6bp suspected to represent founder effects among Ashkenazy Jews and Druze, respectively. WD incidence in the surrounding countries is largely unknown. An early and aggressive liver disease phenotype is a common finding in the Arab population. Despite high levels of consanguinity, a myriad of mutations were reported with no clear phenotype–genotype associations reported. Management of WD is similar to other parts of the world. Liver transplantation is a valid option becoming more available." @default.
- W2891180241 created "2018-09-27" @default.
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- W2891180241 date "2019-01-01" @default.
- W2891180241 modified "2023-09-27" @default.
- W2891180241 title "Wilson Disease in Israel and Vicinity" @default.
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- W2891180241 doi "https://doi.org/10.1016/b978-0-12-810532-0.00030-6" @default.
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