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315 results

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Page 1
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. Among authors: hollak ce. 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
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial.
ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, Wijburg FA, Hollak CE, Bosch AM. ten Hoedt AE, et al. Among authors: hollak ce. J Inherit Metab Dis. 2011 Feb;34(1):165-71. doi: 10.1007/s10545-010-9253-9. Epub 2010 Dec 10. J Inherit Metab Dis. 2011. PMID: 21153445 Free PMC article. Clinical Trial.
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. Among authors: hollak ce. 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
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Demirdas S, van Kessel IN, Korndewal MJ, Hollak CE, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM; Dutch working Group. Demirdas S, et al. Among authors: hollak ce. Orphanet J Rare Dis. 2013 Feb 25;8:37. doi: 10.1186/1750-1172-8-37. Orphanet J Rare Dis. 2013. PMID: 23442887 Free PMC article.
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C. Harmatz P, et al. Mol Genet Metab. 2013 May;109(1):54-61. doi: 10.1016/j.ymgme.2013.01.021. Epub 2013 Feb 9. Mol Genet Metab. 2013. PMID: 23452954 Free article.
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K, van Rijn M, Hofstede FC, Bosch AM, Hollak CE, Rubio-Gozalbo E, de Vries MC, Janssen MC, Boelen CC, Burgerhof JG, Blau N, Heiner-Fokkema MR, van Spronsen FJ. Anjema K, et al. Among authors: hollak ce. Orphanet J Rare Dis. 2013 Jul 10;8:103. doi: 10.1186/1750-1172-8-103. Orphanet J Rare Dis. 2013. PMID: 23842451 Free PMC article. Clinical Trial.
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, van der Ploeg AT. Brands MM, et al. Among authors: hollak ce. J Inherit Metab Dis. 2015 Mar;38(2):323-31. doi: 10.1007/s10545-014-9737-0. Epub 2014 Jul 22. J Inherit Metab Dis. 2015. PMID: 25048386
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. Among authors: hollak ce. 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