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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.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
Issues with European guidelines for phenylketonuria - Authors' reply.
van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A. van Spronsen FJ, et al. Among authors: van rijn m, van wegberg amj. Lancet Diabetes Endocrinol. 2017 Sep;5(9):683-684. doi: 10.1016/S2213-8587(17)30202-4. Lancet Diabetes Endocrinol. 2017. PMID: 28842159 No abstract available.
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.
Does the 48-hour BH4 loading test miss responsive PKU patients?
van Wegberg AMJ, Evers RAF, van Dam E, de Vries MC, Janssen MCH, Heiner-Fokkema MR, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: van spronsen fj, van dam e. Mol Genet Metab. 2020 Mar;129(3):186-192. doi: 10.1016/j.ymgme.2019.12.011. Epub 2019 Dec 24. Mol Genet Metab. 2020. PMID: 31924462 Free article. Clinical Trial.
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. MacDonald A, et al. Among authors: van wegberg amj, van spronsen fj. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Orphanet J Rare Dis. 2020. PMID: 32605583 Free PMC article. Review.
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, van spronsen fj. 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.
28 results