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164 results

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Page 1
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM. Welsink-Karssies MM, et al. Among authors: janssen mch. Mol Genet Metab. 2020 Mar;129(3):171-176. doi: 10.1016/j.ymgme.2020.01.002. Epub 2020 Jan 9. Mol Genet Metab. 2020. PMID: 31954591 Free 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. 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.
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. 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. 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: janssen mch. 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: janssen mch. 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: janssen mch. 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.
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA. Coene KLM, et al. Among authors: janssen mch. J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16. J Inherit Metab Dis. 2018. PMID: 29453510 Free PMC article.
164 results