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Page 1
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: langendonk jg. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
A series of pregnancies in women with inherited metabolic disease.
Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E. Langendonk JG, et al. J Inherit Metab Dis. 2012 May;35(3):419-24. doi: 10.1007/s10545-011-9389-2. Epub 2011 Sep 15. J Inherit Metab Dis. 2012. PMID: 21918856
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
Demirdas S, Maurice-Stam H, Boelen CC, Hofstede FC, Janssen MC, Langendonk JG, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, de Vries M, Grootenhuis MA, Bosch AM. Demirdas S, et al. Among authors: langendonk jg. Mol Genet Metab. 2013;110 Suppl:S49-56. doi: 10.1016/j.ymgme.2013.09.015. Epub 2013 Sep 25. Mol Genet Metab. 2013. PMID: 24100246
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: langendonk jg. 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: langendonk jg. 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: langendonk jg. 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: langendonk jg. 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: langendonk jg. Neuropsychology. 2017 May;31(4):437-447. doi: 10.1037/neu0000358. Epub 2017 Mar 20. Neuropsychology. 2017. PMID: 28318283
101 results