Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre

BACKGROUND: Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression. METHODS: Photographs of the eyes and ears were acquired from patients attending the National Alkaptonuria Centre (NAC) at V‐1 (pre‐b...

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Vydáno v:JIMD Rep
Hlavní autoři: Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Davison, Andrew S., Wilson, Peter J., Dillon, Jane P., West, Elizabeth, Gallagher, James A.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
Research Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463057/
https://ncbi.nlm.nih.gov/pubmed/32904992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12137
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