Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

BACKGROUND: 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. METHODS: Data of the 48-hour BH4 loadin...

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Main Authors:	Anjema, Karen, van Rijn, Margreet, Hofstede, Floris C, Bosch, Annet M, Hollak, Carla EM, Rubio-Gozalbo, Estela, de Vries, Maaike C, Janssen, Mirian CH, Boelen, Carolien CA, Burgerhof, Johannes GM, Blau, Nenad, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J
Format:	Artigo
Language:	Inglês
Published:	BioMed Central 2013
Subjects:	Research
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3711849/ https://ncbi.nlm.nih.gov/pubmed/23842451 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-103
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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

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