PKU dietary handbook to accompany PKU guidelines

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: MacDonald, A., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., van Spronsen, F. J.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7329487/
https://ncbi.nlm.nih.gov/pubmed/32605583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01391-y
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