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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

BACKGROUND: Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results. In this study, we made an inventory of differ...

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Vydáno v:JIMD Rep
Hlavní autoři: Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., ten Hoedt, Amber E., Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rennings, Alexander J. M., Prinsen, Hubertus C. M. T., Wamelink, Mirjam M. C., Ruijter, George J. G., Körver‐Keularts, Irene M. L. W., Heiner‐Fokkema, M. Rebecca, van Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7932865/
https://ncbi.nlm.nih.gov/pubmed/33728249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12186
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