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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: hofstede fc. 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.
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: hofstede fc. 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: hofstede fc. 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
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: hofstede fc. 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: hofstede fc. 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: hofstede fc. 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: hofstede fc. 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
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: hofstede fc. 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
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: hofstede fc. 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
24 results