Looking back at the neonatal period in early-treated phenylketonuric patients
- PMID: 35058603
- DOI: 10.1038/s41390-022-01937-9
Looking back at the neonatal period in early-treated phenylketonuric patients
Comment on
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Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.Pediatr Res. 2022 Mar;91(4):874-878. doi: 10.1038/s41390-021-01728-8. Epub 2021 Sep 8. Pediatr Res. 2022. PMID: 34497359
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- Waisbren, S. E. et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol. Genet. Metab. 92, 63–70 (2007). - DOI
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- Hofman, D. L., Champ, C. L., Lawton, C. L., Henderson, M. & Dye, L. A systematic review of cognitive functioning in early treated adults with phenylketonuria. Orphanet J. Rare Dis. 13, 150 (2018). - DOI
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- Leuzzi, V., Chiarotti, F., Nardecchia, F., van Vliet, D. & van Spronsen, F. J. Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. J. Med. Genet. 57, 145–150 (2020). - DOI
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