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

Internet

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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