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Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC‐QTOF‐MS

BACKGROUND: The homogentisic acid‐lowering therapy nitisinone is being evaluated for the treatment of alkaptonuria (AKU) at the National Centre for AKU. Beyond hypertyrosinemia, the wider metabolic consequences of its use are largely unknown. The aim of this work was to evaluate the impact of nitisi...

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Détails bibliographiques
Publié dans:JIMD Rep
Auteurs principaux: Davison, Andrew S., Norman, Brendan P., Ross, Gordon A., Hughes, Andrew T., Khedr, Milad, Milan, Anna M., Gallagher, James A., Ranganath, Lakshminarayan R.
Format: Artigo
Langue:Inglês
Publié: John Wiley & Sons, Inc. 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606987/
https://ncbi.nlm.nih.gov/pubmed/31392115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12042
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