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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

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Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.
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Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria.
Bioanalysis. 2018 Dec;10(23):1919-1932. doi: 10.4155/bio-2018-0193. Epub 2018 Nov 6.
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What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints?
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