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Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: van karnebeek cd, van wegberg amj, van spronsen fj. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
Patient's thoughts and expectations about centres of expertise for PKU.
van Wegberg AMJ, MacDonald A, Abeln D, Hagedorn TS, Lange E, Trefz F, van Vliet D, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: van vliet d. Orphanet J Rare Dis. 2021 Jan 6;16(1):2. doi: 10.1186/s13023-020-01647-7. Orphanet J Rare Dis. 2021. PMID: 33407655 Free PMC article.
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Casas K, Didycz B, Djordjevic M, Hertecant JL, Leuzzi V, Mathisen P, Nardecchia F, Powell KK, Rutsch F, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: van karnebeek cd, van wegberg amj, van spronsen fj. Nutrients. 2019 Oct 25;11(11):2572. doi: 10.3390/nu11112572. Nutrients. 2019. PMID: 31731404 Free PMC article.
Single amino acid supplementation in aminoacidopathies: a systematic review.
van Vliet D, Derks TG, van Rijn M, de Groot MJ, MacDonald A, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. Among authors: van rijn m, van spronsen fj. Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7. Orphanet J Rare Dis. 2014. PMID: 24422943 Free PMC article. Review.
Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).
Bruinenberg VM, van Vliet D, van der Goot E, Counotte DS, Kuhn M, van Spronsen FJ, van der Zee EA. Bruinenberg VM, et al. Among authors: van der goot e, van vliet d, van der zee ea, van spronsen fj. PLoS One. 2019 Mar 15;14(3):e0213391. doi: 10.1371/journal.pone.0213391. eCollection 2019. PLoS One. 2019. PMID: 30875376 Free PMC article.
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.
Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ, Abeling NGGM, Bassett AS, van Amelsvoort TAMJ, van Spronsen FJ, Booij J. Boot E, et al. Among authors: van amelsvoort tamj, van vliet d, van spronsen fj. Psychol Med. 2017 Dec;47(16):2854-2865. doi: 10.1017/S0033291717001398. Psychol Med. 2017. PMID: 28552082
BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.
van Vliet D, Anjema K, Jahja R, de Groot MJ, Liemburg GB, Heiner-Fokkema MR, van der Zee EA, Derks TG, Kema IP, van Spronsen FJ. van Vliet D, et al. Among authors: van der zee ea, van spronsen fj. Mol Genet Metab. 2015 Jan;114(1):29-33. doi: 10.1016/j.ymgme.2014.11.009. Epub 2014 Nov 15. Mol Genet Metab. 2015. PMID: 25466353
82 results