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Sapropterin Hydrochloride: Enzyme Enhancement Therapy for Phenylketonuria

Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). Historically PKU was a common genetic cause of severe learning difficulties and developmental delay, but with the introduction of newborn screening and early di...

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Bibliografische gegevens
Hoofdauteur: Lachmann, Robin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: SAGE Publications 2011
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3474634/
https://ncbi.nlm.nih.gov/pubmed/23148178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2042018811402248
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