First decade anniversary of the United Kingdom National Alkaptonuria Centre.
作者信息
Khedr Milad, Sireau Nick, Bou-Gharios George, Gallagher Jim A, Ranganath Lakshminarayan R
机构信息
Department of Clinical Biochemistry and Metabolic Medicine Liverpool University Hospitals NHS Foundation Trusts Liverpool UK.
AKU Society Cambridge UK.
出版信息
JIMD Rep. 2023 Jan 18;64(2):212-213. doi: 10.1002/jmd2.12340. eCollection 2023 Mar.
Abstract
摘要
相似文献
1
First decade anniversary of the United Kingdom National Alkaptonuria Centre.英国全国黑尿症中心成立十周年。
JIMD Rep. 2023 Jan 18;64(2):212-213. doi: 10.1002/jmd2.12340. eCollection 2023 Mar.
2
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.从英国国家黑尿症中心收集的关于黑尿症中AKUSSI项目的三年数据以及尼替西农的影响。
Data Brief. 2018 Sep 12;20:1620-1628. doi: 10.1016/j.dib.2018.09.021. eCollection 2018 Oct.
3
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.尼替西农可阻止褐黄病并降低尿黑酸尿症的进展速度：评价尼替西农在英国国家褐黄病中心的疗效。
Mol Genet Metab. 2018 Sep;125(1-2):127-134. doi: 10.1016/j.ymgme.2018.07.011. Epub 2018 Jul 24.
4
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool.尼替西农对尿黑酸和酪氨酸的影响：对利物浦国家黑尿症中心患者的两年调查
Ann Clin Biochem. 2017 May;54(3):323-330. doi: 10.1177/0004563217691065. Epub 2017 Mar 16.
5
Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre.尿黑酸尿症中骨质疏松症的频率、诊断、发病机制和管理：来自英国国家尿黑酸尿症中心的数据分析。
Osteoporos Int. 2021 May;32(5):927-938. doi: 10.1007/s00198-020-05671-y. Epub 2020 Oct 29.
6
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty-seven patients with alkaptonuria.在一个由87名患有黑尿症的患者组成的大型队列中，对脊柱关节炎中的关节置换术进行特征描述。
J Inherit Metab Dis. 2021 May;44(3):656-665. doi: 10.1002/jimd.12340. Epub 2020 Dec 20.
7
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.对87例患者的大型队列进行尿黑酸尿症关节和脊柱表型特征分析，并评估降低尿黑酸治疗的效果。
J Inherit Metab Dis. 2021 May;44(3):666-676. doi: 10.1002/jimd.12363. Epub 2021 Jan 26.
8
ENT manifestations of alkaptonuria: report on a case series.
J Laryngol Otol. 2015 Oct;129(10):1004-8. doi: 10.1017/S0022215115002315.
9
Increased prevalence of Parkinson's disease in alkaptonuria.尿黑酸尿症中帕金森病患病率增加。
JIMD Rep. 2023 May 11;64(4):282-292. doi: 10.1002/jmd2.12367. eCollection 2023 Jul.
10
Living with alkaptonuria.与黑尿症相伴生活。
BMJ. 2011 Sep 29;343:d5155. doi: 10.1136/bmj.d5155.
本文引用的文献
1
Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.大量患者队列中黑尿症及低剂量尼替西农治疗与白内障形成的关联
JIMD Rep. 2022 Apr 9;63(4):351-360. doi: 10.1002/jmd2.12288. eCollection 2022 Jul.
2
Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression.长期低剂量尼替西农治疗成人黑尿症未显示认知能力下降或抑郁严重程度增加。
JIMD Rep. 2022 Mar 17;63(3):221-230. doi: 10.1002/jmd2.12272. eCollection 2022 May.
3
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling.比较2毫克和10毫克尼替西农治疗尿黑酸尿症——一种使用统计建模的方法
JIMD Rep. 2021 Nov 11;63(1):80-92. doi: 10.1002/jmd2.12261. eCollection 2022 Jan.
4
Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.白癜风、尿黑酸尿症与尼替西农——三个家族的报告及文献综述
JIMD Rep. 2021 Jun 14;61(1):25-33. doi: 10.1002/jmd2.12225. eCollection 2021 Sep.
5
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.对87例患者的大型队列进行尿黑酸尿症关节和脊柱表型特征分析，并评估降低尿黑酸治疗的效果。
J Inherit Metab Dis. 2021 May;44(3):666-676. doi: 10.1002/jimd.12363. Epub 2021 Jan 26.
6
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.每日一次尼替西农治疗尿黑酸尿症患者的疗效和安全性（SONIA 2）：一项国际、多中心、开放标签、随机对照试验。
Lancet Diabetes Endocrinol. 2020 Sep;8(9):762-772. doi: 10.1016/S2213-8587(20)30228-X. Epub 2020 Aug 18.
7
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.条件性基因敲除小鼠模型揭示，肝脏中的 4-羥戊二烯酸 1,2-雙加氧酶活性对于降低血液中的高胱氨酸酸水平和治疗尿黑酸症具有重要作用。
Hum Mol Genet. 2019 Dec 1;28(23):3928-3939. doi: 10.1093/hmg/ddz234.
8
Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria.用于尿黑酸尿症患者关键尿代谢物检测的米特拉微量采样装置的评估。
Bioanalysis. 2018 Dec;10(23):1919-1932. doi: 10.4155/bio-2018-0193. Epub 2018 Nov 6.
9
What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints?黑尿病性关节病能让我们了解骨关节炎和关节老化的疾病机制的哪些方面？
Rheumatology (Oxford). 2016 Jul;55(7):1151-2. doi: 10.1093/rheumatology/kev401. Epub 2015 Dec 27.
10
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment.尼替西农治疗尿黑酸尿症 1 型（SONIA 1）的适用性：一项国际、多中心、随机、开放标签、无治疗对照、平行分组、剂量反应研究，旨在探究尼替西农每日一次给药对治疗 4 周后尿黑酸尿症患者 24 小时尿同型胱氨酸排泄量的影响。
Ann Rheum Dis. 2016 Feb;75(2):362-7. doi: 10.1136/annrheumdis-2014-206033. Epub 2014 Dec 4.
Zotero 插件