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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: hollak cem. 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.
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Anjema K, Venema G, Hofstede FC, Carbasius Weber EC, Bosch AM, Ter Horst NM, Hollak CE, Jonkers CF, Rubio-Gozalbo ME, van der Ploeg EM, de Vries MC, Janssen-Regelink RG, Janssen MC, Zweers-van Essen H, Boelen CC, van der Herberg-van de Wetering NA, Heiner-Fokkema MR, van Rijn M, van Spronsen FJ. Anjema K, et al. Mol Genet Metab. 2011;104 Suppl:S60-3. doi: 10.1016/j.ymgme.2011.09.024. Epub 2011 Sep 23. Mol Genet Metab. 2011. PMID: 21996137
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, van Spronsen FJ. Jahja R, et al. Mol Genet Metab. 2013;110 Suppl:S57-61. doi: 10.1016/j.ymgme.2013.10.011. Epub 2013 Oct 22. Mol Genet Metab. 2013. PMID: 24183792
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
Liemburg GB, Jahja R, van Spronsen FJ, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, Huijbregts SC. Liemburg GB, et al. Mol Genet Metab. 2015 Mar;114(3):425-30. doi: 10.1016/j.ymgme.2014.12.302. Epub 2014 Dec 12. Mol Genet Metab. 2015. PMID: 25541101
315 results