Nitisinone causes acquired tyrosinosis in alkaptonuria-Reference-Cited by-同舟云学术

Nitisinone causes acquired tyrosinosis in alkaptonuria

Published:2020-03-05 Issue:5 Volume:43 Page:1014-1023
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Khedr Milad¹²^ORCID,Cooper Maggie S.³,Hughes Andrew T.¹²,Milan Anna M.¹²,Davison Andrew S.¹²,Norman Brendan P.²,Sutherland Hazel⁴,Jarvis Jonathan C.⁴,Fitzgerald Richard⁵,Markinson Louise⁵,Psarelli Eftychia‐Eirini⁶,Ghane Parisa⁷,Deutz Nicolaas E. P.⁸,Gallagher James A.²,Ranganath Lakshminarayan R.¹²

Affiliation:

1. Department of Clinical Biochemistry and Metabolic Medicine Royal Liverpool University Hospitals Trust Liverpool UK

2. Department of Musculoskeletal Biology I, Institute of Ageing and Chronic Disease University of Liverpool Liverpool UK

3. Department of Radiopharmacy Royal Liverpool University Hospitals Trust Liverpool UK

4. School of Sport and Exercise Sciences Liverpool John Moores University Liverpool UK

5. NIHR Royal Liverpool and Broadgreen Clinical Research Facility Liverpool UK

6. Cancer Research UK Liverpool Cancer Trials Unit University of Liverpool Liverpool UK

7. Department of Electrical and Computer Engineering Texas A&M University College Station Texas USA

8. Department of Health and Kinesiology, Centre for Translational Research in Aging & Longevity Texas A&M University College Station Texas USA

Funder

Association for Clinical Biochemistry and Laboratory Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12229

Reference31 articles.

1. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy

2. Oxidation of homogentisic acid to ochronotic pigment in connective tissue

3. Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review

4. 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

5. Recent advances in management of alkaptonuria (invited review; best practice article)

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