What is known about patients’ quality of life with Phenylketonuria and their caregivers? A scoping review
Abstract Background Phenylketonuria (PKU) is a rare genetic disorder characterized by a deficiency in the metabolism of the essential amino acid phenylalanine, which has a neurotoxic effect at high concentrations. The available treatment for PKU involves limiting the intake of phenylalanine through...
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| Huvudupphov: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
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BMC
2024-10-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Ämnen: | |
| Länkar: | https://doi.org/10.1186/s13023-024-03422-4 |
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