由于血浆铜蓝蛋白缺乏症导致的运动障碍以及遗传性血色素沉着症的误诊 - Suppr

Suppr

超能文献

Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis.

作者信息

Fasano Alfonso, Bentivoglio Anna Rita, Colosimo Cesare

出版信息

J Neurol. 2007 Jan;254(1):113-4. doi: 10.1007/s00415-006-0289-6. Epub 2007 Feb 14.

DOI:10.1007/s00415-006-0289-6

PMID:17508145

Abstract

摘要

相似文献

Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis.由于血浆铜蓝蛋白缺乏症导致的运动障碍以及遗传性血色素沉着症的误诊

J Neurol. 2007 Jan;254(1):113-4. doi: 10.1007/s00415-006-0289-6. Epub 2007 Feb 14.

Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.一种新亚型的无铜蓝蛋白血症中的运动障碍与脑铁过载

Parkinsonism Relat Disord. 2015 Jun;21(6):658-60. doi: 10.1016/j.parkreldis.2015.03.014. Epub 2015 Mar 19.

Hereditary haemochromatosis is unlikely to cause movement disorders--a critical review.遗传性血色素沉着症不太可能导致运动障碍——一项批判性综述。

J Neurol. 2004 Jul;251(7):849-52. doi: 10.1007/s00415-004-0445-9.

Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia.一种新型无铜蓝蛋白血症临床类型中，肝铁过载与血清铜蓝蛋白水平降低相关。

Gastroenterology. 2006 Jul;131(1):240-5. doi: 10.1053/j.gastro.2006.04.017.

[Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus].[无铜蓝蛋白血症（遗传性铜蓝蛋白缺乏症）与糖尿病]

Nihon Rinsho. 2006 Sep 28;Suppl 3:100-4.

[Cerebral hemosiderosis related to hereditary ceruloplasmin deficiency. Clinical familial case study].[与遗传性铜蓝蛋白缺乏相关的脑铁沉积症。临床家族病例研究]

Rev Neurol (Paris). 1998 Feb;154(2):158-62.

Hereditary hemochromatosis and movement disorders: the still controversial relationship. Response to Russo et al. in J Neurol (2004) 251:849-852.遗传性血色素沉着症与运动障碍：仍具争议的关系。对鲁索等人发表于《神经病学杂志》（2004年）第251卷第849 - 852页文章的回应

J Neurol. 2006 Feb;253(2):261-2. doi: 10.1007/s00415-005-0954-1. Epub 2005 Aug 17.

[Hereditary hemochromatosis associated with hypoceruloplasminemia with absence of mutations in the HFE gene]].

Rev Esp Enferm Dig. 2000 Sep;92(9):610-1.

Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.

Mov Disord. 2006 Dec;21(12):2217-20. doi: 10.1002/mds.21121.

[Ceruloplasmin deficiency or aceruloplasminemia].[铜蓝蛋白缺乏症或无铜蓝蛋白血症]

Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):176-7.

引用本文的文献

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.脑铁蓄积性神经变性疾病中活动和生存的评估。

Mov Disord Clin Pract. 2024 Jan;11(1):53-62. doi: 10.1002/mdc3.13933. Epub 2023 Dec 1.

Disorders of metal metabolism.金属代谢紊乱

Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015.

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia.铜蓝蛋白替代疗法改善了遗传性血铜蓝蛋白缺乏症的临床前模型中的神经症状。

EMBO Mol Med. 2018 Jan;10(1):91-106. doi: 10.15252/emmm.201708361.

本文引用的文献

Wilson disease.威尔逊氏病

Metab Brain Dis. 2005 Dec;20(4):295-302. doi: 10.1007/s11011-005-7910-8.

Restless legs syndrome and low brain iron levels in patients with haemochromatosis.血色素沉着症患者的不宁腿综合征与脑铁水平降低

J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1009-10. doi: 10.1136/jnnp.2003.030536.

Hereditary haemochromatosis is unlikely to cause movement disorders--a critical review.遗传性血色素沉着症不太可能导致运动障碍——一项批判性综述。

J Neurol. 2004 Jul;251(7):849-52. doi: 10.1007/s00415-004-0445-9.

Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series.遗传性血色素沉着症与特发性帕金森病并存：病例报告系列

J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):631-3. doi: 10.1136/jnnp.2003.027441.

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.揭开哈勒沃登-施帕茨综合征之谜：泛酸激酶相关神经变性病即为此病名称。

Curr Opin Pediatr. 2003 Dec;15(6):572-7. doi: 10.1097/00008480-200312000-00005.

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.卡拉克综合征：一种新型的基底神经节和小脑退行性疾病。

J Med Genet. 2003 Jul;40(7):543-6. doi: 10.1136/jmg.40.7.543.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.编码铁蛋白轻链多肽的基因突变会导致显性成人起病的基底节疾病。

Nat Genet. 2001 Aug;28(4):350-4. doi: 10.1038/ng571.

Brain iron deposition in Parkinson's disease imaged using the PRIME magnetic resonance sequence.使用PRIME磁共振序列对帕金森病患者脑内铁沉积进行成像。

Brain. 2000 Dec;123 Pt 12:2423-31. doi: 10.1093/brain/123.12.2423.

The basal ganglia in haemochromatosis.血色素沉着症中的基底神经节。

Neuroradiology. 2000 Jan;42(1):9-13. doi: 10.1007/s002340050002.

Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome.遗传性血色素沉着症：一例基底节铁蓄积伴帕金森综合征病例

J Neurol Neurosurg Psychiatry. 1995 Sep;59(3):318-21. doi: 10.1136/jnnp.59.3.318.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验