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

Year Number of Results
1999 1
2000 2
2002 2
2003 1
2004 1
2005 4
2006 4
2007 1
2008 1
2009 2
2012 2
2013 1
2014 3
2015 1
2016 1
2017 1
2018 1
2019 2
2020 2
2021 1
2023 0

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29 results

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Page 1
Juvenile haemochromatosis.
Griffiths WJH, Besser M, Bowden DJ, Kelly DA. Griffiths WJH, et al. Lancet Child Adolesc Health. 2021 Jul;5(7):524-530. doi: 10.1016/S2352-4642(20)30392-8. Epub 2021 Apr 15. Lancet Child Adolesc Health. 2021. PMID: 33861982 Review.
MRI software techniques allow quantification of iron in these organs, and can therefore be used to monitor progress. Juvenile haemochromatosis is autosomal recessive and is generally associated with mutations in HJV (type 2A) or HAMP (type 2B). Mutations in T …
MRI software techniques allow quantification of iron in these organs, and can therefore be used to monitor progress. Juvenile haemoch …
Juvenile hemochromatosis.
Camaschella C, Roetto A, De Gobbi M. Camaschella C, et al. Semin Hematol. 2002 Oct;39(4):242-8. doi: 10.1053/shem.2002.35635. Semin Hematol. 2002. PMID: 12382199 Review.
Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to severe iron overload earlier in life than HFE-related hemochromatosis. ...The disease is usually progressive and if untreated may bec …
Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to …
Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P. Bardou-Jacquet E, et al. Clin Res Hepatol Gastroenterol. 2014 Apr;38(2):143-54. doi: 10.1016/j.clinre.2013.11.003. Epub 2013 Dec 8. Clin Res Hepatol Gastroenterol. 2014. PMID: 24321703 Free article. Review.
Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new typ …
Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakt …
Diagnosis and management of hereditary hemochromatosis.
Salgia RJ, Brown K. Salgia RJ, et al. Clin Liver Dis. 2015 Feb;19(1):187-98. doi: 10.1016/j.cld.2014.09.011. Epub 2014 Oct 23. Clin Liver Dis. 2015. PMID: 25454304 Review.
Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. ...This article highlights the current information and data regarding the diagnosis and management of hemochromatosis....
Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. ...This article highlights the …
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X, Xie L, Zhu H, Song L, Xing X, Yang W, Chen X. Kong X, et al. Orphanet J Rare Dis. 2019 Jul 8;14(1):171. doi: 10.1186/s13023-019-1097-2. Orphanet J Rare Dis. 2019. PMID: 31286966 Free PMC article. Review.
In genotype-phenotype correlation analyses, 91.30% of homozygotes with exon 2-3 mutations developed early-onset HH compared to 66.00% of those with exon 4 mutations (P=2.4010(-2)). Hypogonadism occurred more frequently in homozygotes with missense mutations ( …
In genotype-phenotype correlation analyses, 91.30% of homozygotes with exon 2-3 mutations developed early-onset HH compared to 66.00% …
Current approach to hemochromatosis.
Brissot P, Troadec MB, Bardou-Jacquet E, Le Lan C, Jouanolle AM, Deugnier Y, Loréal O. Brissot P, et al. Blood Rev. 2008 Jul;22(4):195-210. doi: 10.1016/j.blre.2008.03.001. Epub 2008 Apr 21. Blood Rev. 2008. PMID: 18430498 Review.
Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatos …
Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer disea …
RGMs: Structural Insights, Molecular Regulation, and Downstream Signaling.
Siebold C, Yamashita T, Monnier PP, Mueller BK, Pasterkamp RJ. Siebold C, et al. Trends Cell Biol. 2017 May;27(5):365-378. doi: 10.1016/j.tcb.2016.11.009. Epub 2016 Dec 19. Trends Cell Biol. 2017. PMID: 28007423 Free PMC article. Review.
Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from multiple sclerosis (MS) to cancer and juvenile hemochromatosis (JHH). While the molecular details of these (patho)biological effe …
Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from mul …
Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).
Bardou-Jacquet E, Brissot P. Bardou-Jacquet E, et al. Hematol Oncol Clin North Am. 2014 Aug;28(4):625-35, v. doi: 10.1016/j.hoc.2014.04.006. Epub 2014 Jun 2. Hematol Oncol Clin North Am. 2014. PMID: 25064704 Review.
HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms of hereditary hemochromatosis include type 2 (A and B, juvenile hemochromatosis caused by HJV and HAMP mu …
HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms …
Hemochromatosis--neonatal and young subjects.
Cox TM, Halsall DJ. Cox TM, et al. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):411-7. doi: 10.1006/bcmd.2002.0580. Blood Cells Mol Dis. 2002. PMID: 12547231 Review.
Juvenile hemochromatosis (JH) is an autosomal recessive disease causing iron overload before age 30 in both sexes. ...Studies of 29 patients in 20 families of diverse ethnic origin confirm early-onset iron overload. Neonatal hemochromatosis (NH) is a syndrome …
Juvenile hemochromatosis (JH) is an autosomal recessive disease causing iron overload before age 30 in both sexes. ...Studies …
Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature.
Angelopoulos NG, Goula AK, Papanikolaou G, Tolis G. Angelopoulos NG, et al. Osteoporos Int. 2006 Jan;17(1):150-5. doi: 10.1007/s00198-005-1920-6. Epub 2005 Jul 5. Osteoporos Int. 2006. PMID: 15997423 Review.
Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis …
Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to orga …
29 results