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The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

BACKGROUND: It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness. METHODS:...

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Detalles Bibliográficos
Autores principales:	Anjema, Karen, Hofstede, Floris C., Bosch, Annet M., Rubio–Gozalbo, M. Estela, de Vries, Maaike C., Boelen, Carolien C.A., van Rijn, Margreet, van Spronsen, Francjan J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731980/ https://www.ncbi.nlm.nih.gov/pubmed/26822130 http://dx.doi.org/10.1186/s13023-016-0394-2

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