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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 3
1999 2
2000 2
2001 2
2002 5
2003 1
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2005 7
2007 3
2008 4
2010 5
2011 4
2012 2
2013 3
2015 2
2016 1
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2018 1
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53 results

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Page 1
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.
Pietrangelo A. Pietrangelo A. Gastroenterology. 2010 Aug;139(2):393-408, 408.e1-2. doi: 10.1053/j.gastro.2010.06.013. Epub 2010 Jun 11. Gastroenterology. 2010. PMID: 20542038 Review.
In humans, loss of TfR2, HJV, and hepcidin itself or FPN mutations result in full-blown hemochromatosis. Unlike these rare instances, in white people, homozygotes for C282Y polymorphism in HFE are numerous, but they are only predisposed to hemochromatosis; co …
In humans, loss of TfR2, HJV, and hepcidin itself or FPN mutations result in full-blown hemochromatosis. Unlike these rare instances, …
Haemochromatosis.
Powell LW, Seckington RC, Deugnier Y. Powell LW, et al. Lancet. 2016 Aug 13;388(10045):706-16. doi: 10.1016/S0140-6736(15)01315-X. Epub 2016 Mar 12. Lancet. 2016. PMID: 26975792 Review.
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. ...Research is unravelling this puzzle by identifying environmental factors …
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resu …
The roles of iron and HFE genotype in neurological diseases.
Kim Y, Connor JR. Kim Y, et al. Mol Aspects Med. 2020 Oct;75:100867. doi: 10.1016/j.mam.2020.100867. Epub 2020 Jul 9. Mol Aspects Med. 2020. PMID: 32654761 Review.
Although iron accumulation related to neurological diseases has been well documented, the pathoetiological contributions of the homeostatic iron regulator (HFE), which controls cellular iron uptake, is less understood. Furthermore, a common HFE variant, H63D HFE …
Although iron accumulation related to neurological diseases has been well documented, the pathoetiological contributions of the homeostatic …
Natural history and management of HFE-hemochromatosis.
Gan EK, Powell LW, Olynyk JK. Gan EK, et al. Semin Liver Dis. 2011 Aug;31(3):293-301. doi: 10.1055/s-0031-1286060. Epub 2011 Sep 7. Semin Liver Dis. 2011. PMID: 21901659 Review.
Advances in our knowledge of hereditary hemochromatosis (HH) over the past 150 years have revealed new insights into this common genetic disorder. Meticulous family and HLA association studies followed ultimately by cloning of the HFE gene have dramatically changed …
Advances in our knowledge of hereditary hemochromatosis (HH) over the past 150 years have revealed new insights into this common gene …
Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review.
Moretti D, van Doorn GM, Swinkels DW, Melse-Boonstra A. Moretti D, et al. Am J Clin Nutr. 2013 Aug;98(2):468-79. doi: 10.3945/ajcn.112.048264. Epub 2013 Jun 26. Am J Clin Nutr. 2013. PMID: 23803887 Free article. Review.
BACKGROUND: Hereditary hemochromatosis (HH) leads to iron loading because of a disturbance in the negative-feedback mechanism between dietary iron absorption and iron status. ...CONCLUSIONS: Despite the limited quantitative evidence and the lack of randomized, prospective …
BACKGROUND: Hereditary hemochromatosis (HH) leads to iron loading because of a disturbance in the negative-feedback mechanism between …
Metals and the liver.
Maxwell KL, Kowdley KV. Maxwell KL, et al. Curr Opin Gastroenterol. 2012 May;28(3):217-22. doi: 10.1097/MOG.0b013e3283521d82. Curr Opin Gastroenterol. 2012. PMID: 22395570 Review.
Uncommon HFE mutations resulting in phenotypic hemochromatosis among C282Y heterozygotes have been identified from HFE gene sequencing. A serum ferritin less than 1000 mug/l in C282Y homozygotes was found to be associated with milder symptoms of hemochroma …
Uncommon HFE mutations resulting in phenotypic hemochromatosis among C282Y heterozygotes have been identified from HFE …
Genetics of haemochromatosis.
Bomford A. Bomford A. Lancet. 2002 Nov 23;360(9346):1673-81. doi: 10.1016/S0140-6736(02)11607-2. Lancet. 2002. PMID: 12457803 Review.
After identification of the hereditary haemochromatosis gene HFE, and receipt of confirmation that most patients with the condition were homozygous for a single, founder mutation (C282Y), most assumed that C282Y would be a prevalent, highly penetrant mutation in a g …
After identification of the hereditary haemochromatosis gene HFE, and receipt of confirmation that most patients with the cond …
Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin.
Pietrangelo A. Pietrangelo A. Gastroenterology. 2015 Oct;149(5):1240-1251.e4. doi: 10.1053/j.gastro.2015.06.045. Epub 2015 Jul 9. Gastroenterology. 2015. PMID: 26164493 Review.
In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified. HFE gene testing can …
In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease de …
Molecular diagnosis of hemochromatosis.
Piperno A. Piperno A. Expert Opin Med Diagn. 2013 Mar;7(2):161-77. doi: 10.1517/17530059.2013.763794. Epub 2013 Jan 23. Expert Opin Med Diagn. 2013. PMID: 23530886 Review.
INTRODUCTION: The discovery of hemochromatosis genes and the availability of molecular-genetic tests considerably modified the knowledge of the disease relative to physiopathology, penetrance, and expression, and had major impact in the diagnostic settings. ...The r …
INTRODUCTION: The discovery of hemochromatosis genes and the availability of molecular-genetic tests considerably modified the …
Review article: haemochromatosis.
Whittington CA, Kowdley KV. Whittington CA, et al. Aliment Pharmacol Ther. 2002 Dec;16(12):1963-75. doi: 10.1046/j.1365-2036.2002.01371.x. Aliment Pharmacol Ther. 2002. PMID: 12452931 Free article. Review.
It is characterized by an autosomal recessive mode of inheritance, and most cases are homozygous for the C282Y mutation in the HFE gene. Haemochromatosis is now recognized to be a complex genetic disease with probable significant environmental and genetic modifyi …
It is characterized by an autosomal recessive mode of inheritance, and most cases are homozygous for the C282Y mutation in the HFE ge …
53 results