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Key European guidelines for the diagnosis and management of patients with phenylketonuria.
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: trefz fk.
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.
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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: trefz fk.
Nutrients. 2019 Oct 25;11(11):2572. doi: 10.3390/nu11112572.
Nutrients. 2019.
PMID: 31731404
Free PMC article.
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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: trefz fk.
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.
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Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
Blau N, Bernegger C, Trefz FK.
Blau N, et al. Among authors: trefz fk.
Eur J Pediatr. 2003 Mar;162(3):196. doi: 10.1007/s00431-002-1034-5.
Eur J Pediatr. 2003.
PMID: 12659094
No abstract available.
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