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Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations
Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients. The main signs and symptoms are found in the brain but th...
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| Опубликовано в: : | Aging Dis |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
JKL International LLC
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4567221/ https://ncbi.nlm.nih.gov/pubmed/26425393 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14336/AD.2015.0827 |
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