Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
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Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsivenessMolecular genetics and diagnosis of phenylketonuria: state of the art.The complete European guidelines on phenylketonuria: diagnosis and treatment.
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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 10 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Tetrahydrobiopterin responsive ...... our loading test and genotype.
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Tetrahydrobiopterin responsive ...... our loading test and genotype.
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type
label
Tetrahydrobiopterin responsive ...... our loading test and genotype.
@en
Tetrahydrobiopterin responsive ...... our loading test and genotype.
@nl
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Tetrahydrobiopterin responsive ...... our loading test and genotype.
@en
Tetrahydrobiopterin responsive ...... our loading test and genotype.
@nl
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Tetrahydrobiopterin responsive ...... hour loading test and genotype
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Carla E M Hollak
Carolien C A Boelen
Estela Rubio-Gozalbo
Floris C Hofstede
Francjan J van Spronsen
Johannes G M Burgerhof
Karen Anjema
M Rebecca Heiner-Fokkema
Maaike C de Vries
Margreet van Rijn
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P2888
P356
10.1186/1750-1172-8-103
P577
2013-07-10T00:00:00Z
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P6179
1015772062