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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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| 主要作者: | |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
SAGE Publications
2011
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| 主題: | |
| 在線閱讀: | 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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