与G80S相关的铁转运蛋白病：希腊一家族的首例临床描述。 - Suppr

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G80S-linked ferroportin disease: the first clinical description in a Greek family.

作者信息

Mougiou A, Pietrangelo A, Caleffi A, Kourakli A, Karakantza M, Zoumbos N

出版信息

Blood Cells Mol Dis. 2008 Jul-Aug;41(1):138-9. doi: 10.1016/j.bcmd.2008.03.002. Epub 2008 Apr 16.

DOI:10.1016/j.bcmd.2008.03.002

PMID:18420432

Abstract

摘要

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G80S-linked ferroportin disease: the first clinical description in a Greek family.

作者信息

Mougiou A, Pietrangelo A, Caleffi A, Kourakli A, Karakantza M, Zoumbos N

出版信息

Blood Cells Mol Dis. 2008 Jul-Aug;41(1):138-9. doi: 10.1016/j.bcmd.2008.03.002. Epub 2008 Apr 16.

DOI:10.1016/j.bcmd.2008.03.002

PMID:18420432

Abstract

摘要

相似文献

G80S-linked ferroportin disease: the first clinical description in a Greek family.

Blood Cells Mol Dis. 2008 Jul-Aug;41(1):138-9. doi: 10.1016/j.bcmd.2008.03.002. Epub 2008 Apr 16.

A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):309-14. doi: 10.1016/j.bcmd.2005.07.007. Epub 2005 Aug 18.

[Practical use of genetic markers other than C282Y in iron overload disorders].

Gastroenterol Clin Biol. 2002 Nov;26(11):991-3.

Monitoring of hepcidin levels in a patient with G80S-linked ferroportin disease undergoing iron depletion by phlebotomy.

Clin Chim Acta. 2014 Mar 20;430:20-1. doi: 10.1016/j.cca.2013.12.024. Epub 2013 Dec 24.

Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease.

Hepatology. 2005 Aug;42(2):466-72. doi: 10.1002/hep.20775.

A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia.

Br J Haematol. 2010 Jun;149(6):914-6. doi: 10.1111/j.1365-2141.2010.08137.x. Epub 2010 Mar 3.

A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron.

Intern Med. 2005 Sep;44(9):990-3. doi: 10.2169/internalmedicine.44.990.

Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.

Gastroenterology. 2011 Jun;140(7):2056-63, 2063.e1. doi: 10.1053/j.gastro.2011.02.064. Epub 2011 Mar 9.

Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease.

Blood Cells Mol Dis. 2008 May-Jun;40(3):328-33. doi: 10.1016/j.bcmd.2007.11.001. Epub 2007 Dec 21.

Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.

Blood Cells Mol Dis. 2005 Mar-Apr;34(2):157-61. doi: 10.1016/j.bcmd.2004.12.002.

引用本文的文献

A 70-year-old Woman with Asymptomatic Ferroportin Disease.

Intern Med. 2024 Sep 1;63(17):2421-2425. doi: 10.2169/internalmedicine.2392-23. Epub 2024 Feb 1.

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Pharmaceuticals (Basel). 2019 Sep 9;12(3):132. doi: 10.3390/ph12030132.

Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica. 2017 Dec;102(12):1972-1984. doi: 10.3324/haematol.2017.170720. Epub 2017 Nov 3.

The global burden of iron overload.

Hepatol Int. 2009 Sep;3(3):434-44. doi: 10.1007/s12072-009-9144-z. Epub 2009 Jul 29.