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A Turkish Patient with Aceruloplasminemia Found to Have a Novel Pathogenic Variant Presenting with High Ferritin Level and Microcytic Anemia.

作者信息

Özkalaycı Hande, Uluköylü Mengüç Meral, Güleray Lafcı Naz, Öztürk Kaymak Ayşegül

机构信息

Bolu Abant İzzet Baysal Training and Research Hospital, Department of Medical Genetics, Bolu, Türkiye

Bolu Abant İzzet Baysal Training and Research Hospital, Department of Hematology, Bolu, Türkiye

出版信息

Turk J Haematol. 2023 Dec 5;40(4):288-290. doi: 10.4274/tjh.galenos.2023.2023.0270. Epub 2023 Sep 12.

DOI:10.4274/tjh.galenos.2023.2023.0270
PMID:37698253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10701324/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/10701324/5eac26345a4d/TJH-40-288-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/10701324/5eac26345a4d/TJH-40-288-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/10701324/5eac26345a4d/TJH-40-288-g1.jpg

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本文引用的文献

1
Inherited iron overload disorders.遗传性铁过载疾病。
Transl Gastroenterol Hepatol. 2020 Apr 5;5:25. doi: 10.21037/tgh.2019.11.15. eCollection 2020.
2
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.十三例非典型贫血早诊线索伴脑腱体脂质沉积症患者的基因和临床异质性研究
Int J Mol Sci. 2020 Mar 30;21(7):2374. doi: 10.3390/ijms21072374.
3
Aceruloplasminemia.无铜蓝蛋白血症
Neuropathology. 2015 Feb;35(1):83-90. doi: 10.1111/neup.12149. Epub 2014 Aug 28.
4
Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin.在表达糖基磷脂酰肌醇结合铜蓝蛋白的细胞中，亚铁氧化酶活性对于细胞表面铁转运蛋白的稳定性是必需的。
EMBO J. 2007 Jun 20;26(12):2823-31. doi: 10.1038/sj.emboj.7601735. Epub 2007 May 31.
5
Aceruloplasminemia, an inherited disorder of iron metabolism.无铜蓝蛋白血症，一种铁代谢的遗传性疾病。
Biometals. 2003 Mar;16(1):205-13. doi: 10.1023/a:1020775101654.
6
The physiopathological significance of ceruloplasmin. A possible therapeutic approach.铜蓝蛋白的生理病理学意义。一种可能的治疗方法。
Biochem Pharmacol. 2000 Dec 15;60(12):1735-41. doi: 10.1016/s0006-2952(00)00399-3.
7
Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain.可变RNA剪接在哺乳动物大脑中产生糖基磷脂酰肌醇锚定形式的铜蓝蛋白。
J Biol Chem. 2000 Feb 11;275(6):4305-10. doi: 10.1074/jbc.275.6.4305.