Matches in SemOpenAlex for { <https://semopenalex.org/work/W2365126164> ?p ?o ?g. }
- W2365126164 endingPage "22" @default.
- W2365126164 startingPage "3" @default.
- W2365126164 abstract "Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The majority of patients with HFE-HC are homozygotes for the C282Y polymorphism [1]. Without therapeutic intervention, there is a risk that iron overload will occur, with the potential for tissue damage and disease. While a specific genetic test now allows for the diagnosis of HFE-HC, the uncertainty in defining cases and disease burden, as well as the low phenotypic penetrance of C282Y homozygosity poses a number of clinical problems in the management of patients with HC. This Clinical Practice Guideline will therefore, focus on HFE-HC, while rarer forms of genetic iron overload recently attributed to pathogenic mutations of transferrin receptor 2, (TFR2), hepcidin (HAMP), hemojuvelin (HJV), or to a sub-type of ferroportin (FPN) mutations, on which limited and sparse clinical and epidemiologic data are available, will not be discussed. We have developed recommendations for the screening, diagnosis, and management of HFE-HC." @default.
- W2365126164 created "2016-06-24" @default.
- W2365126164 creator A5076907729 @default.
- W2365126164 date "2010-07-01" @default.
- W2365126164 modified "2023-10-14" @default.
- W2365126164 title "EASL clinical practice guidelines for HFE hemochromatosis" @default.
- W2365126164 cites W1247968195 @default.
- W2365126164 cites W1484475307 @default.
- W2365126164 cites W1495778350 @default.
- W2365126164 cites W1520435592 @default.
- W2365126164 cites W1521222329 @default.
- W2365126164 cites W1527546084 @default.
- W2365126164 cites W1532307661 @default.
- W2365126164 cites W1602382933 @default.
- W2365126164 cites W1860102923 @default.
- W2365126164 cites W1917375029 @default.
- W2365126164 cites W1963967290 @default.
- W2365126164 cites W1966778627 @default.
- W2365126164 cites W1967166246 @default.
- W2365126164 cites W1970453456 @default.
- W2365126164 cites W1970975096 @default.
- W2365126164 cites W1975643300 @default.
- W2365126164 cites W1978815356 @default.
- W2365126164 cites W1979438687 @default.
- W2365126164 cites W1979511836 @default.
- W2365126164 cites W1981728872 @default.
- W2365126164 cites W1983418954 @default.
- W2365126164 cites W1984353465 @default.
- W2365126164 cites W1985939821 @default.
- W2365126164 cites W1986976917 @default.
- W2365126164 cites W1987057326 @default.
- W2365126164 cites W1987171553 @default.
- W2365126164 cites W1988101801 @default.
- W2365126164 cites W1988664382 @default.
- W2365126164 cites W1989854417 @default.
- W2365126164 cites W1990663225 @default.
- W2365126164 cites W1990868065 @default.
- W2365126164 cites W1992109729 @default.
- W2365126164 cites W1995403072 @default.
- W2365126164 cites W1997934597 @default.
- W2365126164 cites W1998872310 @default.
- W2365126164 cites W2001189344 @default.
- W2365126164 cites W2002605005 @default.
- W2365126164 cites W2004936857 @default.
- W2365126164 cites W2007019767 @default.
- W2365126164 cites W2007297810 @default.
- W2365126164 cites W2010526850 @default.
- W2365126164 cites W2011007951 @default.
- W2365126164 cites W2012343068 @default.
- W2365126164 cites W2013144056 @default.
- W2365126164 cites W2013566167 @default.
- W2365126164 cites W2015111051 @default.
- W2365126164 cites W2015440054 @default.
- W2365126164 cites W2017673502 @default.
- W2365126164 cites W2018447053 @default.
- W2365126164 cites W2020716649 @default.
- W2365126164 cites W2020800483 @default.
- W2365126164 cites W2021074891 @default.
- W2365126164 cites W2021685891 @default.
- W2365126164 cites W2021949769 @default.
- W2365126164 cites W2023397971 @default.
- W2365126164 cites W2025332231 @default.
- W2365126164 cites W2026774674 @default.
- W2365126164 cites W2028107207 @default.
- W2365126164 cites W2028546325 @default.
- W2365126164 cites W2029325051 @default.
- W2365126164 cites W2030157749 @default.
- W2365126164 cites W2035638949 @default.
- W2365126164 cites W2035772349 @default.
- W2365126164 cites W2036533362 @default.
- W2365126164 cites W2036909153 @default.
- W2365126164 cites W2038691636 @default.
- W2365126164 cites W2038944724 @default.
- W2365126164 cites W2039312022 @default.
- W2365126164 cites W2040156226 @default.
- W2365126164 cites W2042600832 @default.
- W2365126164 cites W2044075379 @default.
- W2365126164 cites W2045658797 @default.
- W2365126164 cites W2046201461 @default.
- W2365126164 cites W2046306399 @default.
- W2365126164 cites W2046484014 @default.
- W2365126164 cites W2049599397 @default.
- W2365126164 cites W2050328770 @default.
- W2365126164 cites W2050364585 @default.
- W2365126164 cites W2051504994 @default.
- W2365126164 cites W2051719637 @default.
- W2365126164 cites W2052322250 @default.
- W2365126164 cites W2052544197 @default.
- W2365126164 cites W2052849822 @default.
- W2365126164 cites W2054401837 @default.
- W2365126164 cites W2055398309 @default.
- W2365126164 cites W2055596490 @default.
- W2365126164 cites W2056337725 @default.
- W2365126164 cites W2056588489 @default.
- W2365126164 cites W2057235630 @default.
- W2365126164 cites W2058416757 @default.
- W2365126164 cites W2058754979 @default.
- W2365126164 cites W2061900539 @default.