Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature-Reference-Cited by-同舟云学术

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Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature

Published:2021-06-14 Issue:1 Volume:61 Page:25-33
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Ranganath Lakshminarayan¹^ORCID,Khedr Milad¹,Evans Leanne A.¹,Bygott Helen¹,Luangrath Emily¹,West Elizabeth²

Affiliation:

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

2. Department of Dermatology Royal Liverpool University Hospital Liverpool UK

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12225

Reference32 articles.

1. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

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

3. Natural History of Alkaptonuria

4. THE NATURE OF THE DEFECT IN TYROSINE METABOLISM IN ALCAPTONURIA

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

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria;Nutrients;2024-08-15

2. Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria;Journal of Inherited Metabolic Disease;2024-03-15

3. Bile is a route of excretion for homogentisic acid in alkaptonuria;2023-12-18

4. First decade anniversary of the United Kingdom National Alkaptonuria Centre;JIMD Reports;2023-01-18

5. Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria;Scientific Reports;2022-09-27

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