Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review
Abstract Background Phenylketonuria (PKU) is a rare condition that causes the accumulation of phenylalanine; without prompt diagnosis and treatment following birth, severe neurologic and cognitive impairments occur. While dietary management can help reduce Phe levels, adherence is challenging and de...
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| Main Authors: | Fiona O’Sullivan, Ioannis Tomazos, Francjan J. van Spronsen, Shelagh M. Szabo, Maanasa Venkataraman, Lavanya Huria, Neil Smith, Lachlan Molony, Kim Ingalls, Kathleen Somera-Molina, Rongrong Zhang, Cary O. Harding |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03830-0 |
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