The complete European guidelines on phenylketonuria: diagnosis and treatment

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause se...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H., van Spronsen, F. J.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Review
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5639803/
https://ncbi.nlm.nih.gov/pubmed/29025426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0685-2
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