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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...
Bewaard in:
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
SAGE Publications
2011
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| 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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