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317 results

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Page 1
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.
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.
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Among authors: hollak ce. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 Free PMC 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.
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
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
Bone health in phenylketonuria: a systematic review and meta-analysis.
Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Demirdas S, et al. Among authors: hollak ce. Orphanet J Rare Dis. 2015 Feb 15;10:17. doi: 10.1186/s13023-015-0232-y. Orphanet J Rare Dis. 2015. PMID: 25758373 Free PMC article. Review.
317 results