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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.

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Bibliographic Details
Main Authors: Anjema, Karen (Author) , van Rijn, Margreet (Author) , Hofstede, Floris C. (Author) , Bosch, Annet M. (Author) , Hollak, Carla EM (Author) , Rubio-Gozalbo, Estela (Author) , de Vries, Maaike C. (Author) , Janssen, Mirian CH (Author) , Boelen, Carolien CA (Author) , Burgerhof, Johannes GM (Author) , Blau, Nenad (Author) , Heiner-Fokkema, M. Rebecca (Author) , van Spronsen, Francjan J. (Author)
Format: Article (Journal)
Language:English
Published: 10 July 2013
In: Orphanet journal of rare diseases
Year: 2013, Volume: 8
ISSN:1750-1172
DOI:10.1186/1750-1172-8-103
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1750-1172-8-103
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Author Notes: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
Description
Summary: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.
Item Description:Gesehen am 25.11.2020
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/1750-1172-8-103

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