Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
How to efficiently diagnose tetrahydrobiopterin (BH4) responsiveness in patients with phenylketonuria remains unclear. This study investigated the positive predictive value (PPV) of the 48-hour BH4 loading test and the additional value of genotype.
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
10 July 2013
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| In: |
Orphanet journal of rare diseases
Year: 2013, Jahrgang: 8 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-8-103 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1750-1172-8-103
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| Verfasserangaben: | Karen Anjema, Margreet van Rijn, Floris C Hofstede, Annet M Bosch, Carla EM Hollak, Estela Rubio-Gozalbo, Maaike C de Vries, Mirian CH Janssen, Carolien CA Boelen, Johannes GM Burgerhof, Nenad Blau, M Rebecca Heiner-Fokkema and Francjan J van Spronsen |
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| 520 | |a How to efficiently diagnose tetrahydrobiopterin (BH4) responsiveness in patients with phenylketonuria remains unclear. This study investigated the positive predictive value (PPV) of the 48-hour BH4 loading test and the additional value of genotype. | ||
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