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对接受2-(2-硝基-4-三氟甲基苯甲酰基)-1,3-环己二酮(NTBC)治疗的I型酪氨酸血症患者进行眼科随访。

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.

作者信息

Gissen P, Preece M A, Willshaw H A, McKiernan P J

机构信息

Liver Unit, Birmingham Children's Hospital, Birmingham, UK.

出版信息

J Inherit Metab Dis. 2003;26(1):13-6. doi: 10.1023/a:1024011110116.

DOI:10.1023/a:1024011110116
PMID:12872835
Abstract

NTBC has revolutionized the management of tyrosinaemia type I, although animal experiments have shown that long-term administration may produce corneal opacities analogous to those in tyrosinaemia type II. We have assessed the prevalence of ocular side-effects in 11 tyrosinaemia type I patients on NTBC attending the Birmingham Children's Hospital. Despite high plasma tyrosine concentrations in some patients, they did not experience symptoms or signs of ocular toxicity.

摘要

NTBC彻底改变了I型酪氨酸血症的治疗方式,尽管动物实验表明长期给药可能会产生类似于II型酪氨酸血症的角膜混浊。我们评估了在伯明翰儿童医院接受NTBC治疗的11例I型酪氨酸血症患者眼部副作用的发生率。尽管一些患者血浆酪氨酸浓度很高,但他们并未出现眼部毒性的症状或体征。

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本文引用的文献

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2
Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) and its effect on enzymes involved in tyrosine catabolism in the mouse.2-(2-硝基-4-三氟甲基苯甲酰基)-环己烷-1,3-二酮(NTBC)在小鼠体内的组织分布及其对酪氨酸分解代谢相关酶的影响。
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Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
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Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.1 型酪氨酸血症的药物治疗的长期结果和实际考虑
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Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.低剂量尼替西农治疗后高酪氨酸血症继发的无症状性角膜病变及黑尿病中酪氨酸角膜病变的文献综述
JIMD Rep. 2018;40:31-37. doi: 10.1007/8904_2017_62. Epub 2017 Sep 24.
7
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.I 型酪氨酸血症的诊断和治疗:美国和加拿大共识小组的回顾和建议。
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I型酪氨酸血症与NTBC(2-(2-硝基-4-三氟甲基苯甲酰基)-1,3-环己二酮)
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From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.从毒理学问题到治疗用途:2-(2-硝基-4-三氟甲基苯甲酰基)-1,3-环己二酮(NTBC)作用机制的发现、毒理学及药物研发
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The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: a morphological ultrastructural study of the cornea and the conjunctiva.
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