Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone

Background: Alkaptonuria (AKU) is a rare inherited disorder of the tyrosine metabolic pathway. Our group is evaluating the use of the homogentisic acid-lowering agent nitisinone in patients with AKU. A major biochemical consequence of this treatment is hypertyrosinaemia. Herein we report the concent...

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Publicado en:JIMD Rep
Autores principales: Davison, A. S., Norman, B. P., Smith, E. A., Devine, J., Usher, J., Hughes, A. T., Khedr, M., Milan, A. M., Gallagher, J. A., Ranganath, L. R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122054/
https://ncbi.nlm.nih.gov/pubmed/29754208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_109
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