Use of sapropterin in the management of phenylketonuria: Seven case reports

H. Gokmen Ozel, A. M. Lammardo, K. Motzfeldt, J. C. Rocha, M. van Rijn, K. Ahring, A. Belanger-Quintana, A. MacDonald*, K. Dokoupil, M. Robert

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

5 Citaten (Scopus)


Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder. (C) 2012 Elsevier Inc. All rights reserved.

Originele taal-2English
Pagina's (van-tot)109-111
Aantal pagina's3
TijdschriftMolecular Genetics and Metabolism
Nummer van het tijdschrift2
StatusPublished - feb.-2013

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