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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 no: | JIMD Rep |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2018
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| Assuntos: | |
| Acesso em linha: | 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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