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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: brouwers mc. 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. Among authors: brouwers mc. 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
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R. Hollak CE, et al. Among authors: brouwers m. Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5. Orphanet J Rare Dis. 2016. PMID: 26809514 Free PMC article.
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.
Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ. Jahja R, et al. Among authors: brouwers mcgj. J Inherit Metab Dis. 2016 May;39(3):355-362. doi: 10.1007/s10545-016-9918-0. Epub 2016 Feb 25. J Inherit Metab Dis. 2016. PMID: 26914933 Free PMC article.
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Legemaat AM, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ. Jahja R, et al. Among authors: brouwers mcgj. Neuropsychology. 2017 May;31(4):437-447. doi: 10.1037/neu0000358. Epub 2017 Mar 20. Neuropsychology. 2017. PMID: 28318283
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.
Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ. Jahja R, et al. Among authors: brouwers mcgj. Behav Genet. 2017 Sep;47(5):486-497. doi: 10.1007/s10519-017-9863-1. Epub 2017 Aug 3. Behav Genet. 2017. PMID: 28776207 Free PMC article.
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.
Huijbregts SCJ, Bosch AM, Simons QA, Jahja R, Brouwers MCGJ, De Sonneville LMJ, De Vries MC, Hofstede FC, Hollak CEM, Janssen MCH, Langendonk JG, Rubio-Gozalbo ME, Van der Meere JJ, Van der Ploeg AT, Van Spronsen FJ. Huijbregts SCJ, et al. Among authors: brouwers mcgj. Mol Genet Metab. 2018 Sep;125(1-2):96-103. doi: 10.1016/j.ymgme.2018.07.002. Epub 2018 Jul 7. Mol Genet Metab. 2018. PMID: 30007854
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM. Haijes HA, et al. Among authors: brouwers mcgj. J Inherit Metab Dis. 2020 May;43(3):424-437. doi: 10.1002/jimd.12193. Epub 2019 Dec 22. J Inherit Metab Dis. 2020. PMID: 31828787 Free PMC article.
Kidney and vascular function in adult patients with hereditary fructose intolerance.
Simons N, Debray FG, Schaper NC, Feskens EJM, Hollak CEM, Bons JAP, Bierau J, Houben AJHM, Schalkwijk CG, Stehouwer CDA, Cassiman D, Brouwers MCGJ. Simons N, et al. Mol Genet Metab Rep. 2020 May 11;23:100600. doi: 10.1016/j.ymgmr.2020.100600. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32426234 Free PMC article.
218 results