Hearing loss and small and large fibre neuropathy associated with the heterozygous variants c.20A>T in HBB and del-3.7 in HBA.
作者信息
Finsterer Josef, Scorza Fulvio A, Scorza Carla A, Fiorini Ana C
机构信息
Neurology and Neurophysiology Center, Vienna, Austria.
Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP/EPM), São Paulo, SP, Brazil.
出版信息
Clinics (Sao Paulo). 2025 Feb 28;80:100597. doi: 10.1016/j.clinsp.2025.100597. eCollection 2025.
Abstract
摘要
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本文引用的文献
1
Hearing loss in beta-thalassaemia: An Italian multicentre case-control study.β-地中海贫血所致听力损失：一项意大利多中心病例对照研究。
Br J Haematol. 2024 May;204(5):2016-2024. doi: 10.1111/bjh.19401. Epub 2024 Mar 18.
2
Peripheral Neuropathy in Beta-Thalassemia: Corneal Confocal Microscopy-Based Study.β地中海贫血中的周围神经病变：基于角膜共焦显微镜的研究
Cureus. 2022 Dec 1;14(12):e32122. doi: 10.7759/cureus.32122. eCollection 2022 Dec.
3
Haemoglobin causes neuronal damage which is preventable by haptoglobin.血红蛋白会导致神经元损伤，而触珠蛋白可预防这种损伤。
Brain Commun. 2020 Jan 3;2(1):fcz053. doi: 10.1093/braincomms/fcz053.
4
Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil.巴西北里奥格兰德州成人人群中α-地中海贫血 3.7kb 缺失的流行率。
Genet Mol Biol. 2012 Jul;35(3):594-8. doi: 10.1590/S1415-47572012005000049. Epub 2012 Jul 26.
5
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.血红蛋白病：临床表现、诊断和治疗。
Dtsch Arztebl Int. 2011 Aug;108(31-32):532-40. doi: 10.3238/arztebl.2011.0532. Epub 2011 Aug 8.
6
Peripheral neuropathy in thalassaemia.地中海贫血中的周围神经病变
Ann Saudi Med. 2006 Sep-Oct;26(5):358-63. doi: 10.5144/0256-4947.2006.358.
7
Axonal sensorimotor neuropathy in patients with beta-thalassaemia.β地中海贫血患者的轴索性感觉运动神经病
J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1483-6. doi: 10.1136/jnnp.2003.024794.
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