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

Abstract 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...

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Main Authors: Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2020-09-01
Colecção:JIMD Reports
Assuntos:
alkaptonuria
nitisinone
homogentisic acid
eye ochronosis
ear ochronosis
ear cartilage biopsy
Acesso em linha:https://doi.org/10.1002/jmd2.12137
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