Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy.
作者信息
Sarfraz Mohammad Waseem, Smith Martin, Jones Simon, Ashworth Jane
机构信息
Ophthalmology, Manchester Royal Eye Hospital, Manchester, Greater Manchester, UK
Optometry, Martin Smith Opticians, Lincoln, Lincolnshire, UK.
出版信息
BMJ Case Rep. 2021 Feb 10;14(2):e238544. doi: 10.1136/bcr-2020-238544.
Abstract
摘要
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Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.成人期开始的酶替代疗法：黏多糖贮积症 VI 临床监测计划的研究结果。
Mol Genet Metab. 2019 Aug;127(4):355-360. doi: 10.1016/j.ymgme.2019.06.008. Epub 2019 Jul 2.
2
Diagnostic and treatment strategies in mucopolysaccharidosis VI.黏多糖贮积症VI型的诊断与治疗策略
Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015.
3
Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?酶替代疗法会影响 VI 型黏多糖贮积症的眼部变化吗？
Graefes Arch Clin Exp Ophthalmol. 2009 Jul;247(7):975-80. doi: 10.1007/s00417-008-1030-1. Epub 2009 Jan 22.
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