نتائج البحث

1

دورية أكاديمية

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

المؤلفون: van Wegberg, A. M. J., van der Weerd, J. C., Engelke, U. F. H., Coene, K. L. M., Jahja, R., Bakker, S. J. L., Huijbregts, S. C. J., Wevers, R. A., Heiner‐Fokkema, M. R., van Spronsen, F. J.

المساهمون: Nutricia Research Foundation, Netherlands Organization for International Cooperation in Higher Education

المصدر: Journal of Inherited Metabolic Disease ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12732Test

View record in BASE

2

دورية أكاديمية

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

المصدر: van Vliet , K , van Ginkel , W G , Jahja , R , Daly , A , MacDonald , A , Santra , S , De Laet , C , Goyens , P J , Vara , R , Rahman , Y , Cassiman , D , Eyskens , F , Timmer , C , Mumford , N , Gissen , P , Bierau , J , van Hasselt , P M , Wilcox , G , Morris , A A M , Jameson , E A , de la Parra , A , Arias , C ....

مصطلحات موضوعية: Amsterdam Neuropsychological Tasks, executive functions, neurocognitive outcome, phenylketonuria, social cognition, tyrosinemia type 1, TREATED PHENYLKETONURIA, ADULT PHENYLKETONURIA, NTBC TREATMENT, PHENYLALANINE, NITISINONE, INHIBITION, MANAGEMENT, PROFILE

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/cbf19ef0-8cf6-4720-97f5-e3dcfdf981f4Test

الإتاحة: https://doi.org/10.1002/jimd.12528Test
https://cris.maastrichtuniversity.nl/en/publications/cbf19ef0-8cf6-4720-97f5-e3dcfdf981f4Test

View record in BASE

3

Symptoms of anxiety but not depression before start of taxane-based chemotherapy are associated with peripheral neuropathy: a multicenter study in women with breast cancer

المؤلفون: Verhoeff-Jahja, R., Kuile, M.M. ter, Weijl, N.I., Oosterkamp, R., Cloos, M., Portielje, J.E.A., Kroep, J.R., Hinnen, C.

المصدر: Supportive Care in Cancer, 30(8), 6947-6953. SPRINGER

مصطلحات موضوعية: Chemotherapy-induced peripheral neuropathy, Oncology, Depression, Anxiety, Cancer

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e27c945d976f23ec92897fded9f3fb3Test
https://doi.org/10.1007/s00520-022-07093-4Test

4

دورية أكاديمية

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

المؤلفون: Jahja, R. (Rianne), Spronsen, F.J. van, Sonneville, L.M.J. (Leo) de, Meere, J.J. (J.) van der, Bosch, A.M. (Annet), Hollak, C.E.M. (Carla), Rubio-Gozalbo, M.E. (Estela), Brouwers, M.C.G.J. (M. C G J), Hofstede, F.C. (Floris), Vries, M. (Maaike) de, Janssen, M.C.H. (Mirian), Ploeg, A.T. (Ans) van der, Langendonk, J.G. (Janneke), Huijbregts, S.C.J. (Stephan C.J.)

المصدر: Behavior Genetics, pp. 1-12

مصطلحات موضوعية: Adults, Executive functioning, Executive motor control, Longitudinal, Mental health, Phenylketonuria

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/101038Test; urn:hdl:1765/101038

الإتاحة: https://doi.org/10.1007/s10519-017-9863-1Test
http://repub.eur.nl/pub/101038Test

View record in BASE

5

دورية أكاديمية

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

المؤلفون: Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., Nieman, D. H., Bosch, A. M., Bour, L. J., Bakermans, A. J., Abeling, N. G. G. M., Bassett, A. S., van Amelsvoort, T. A. M. J., van Spronsen, F. J., Booij, J.

المصدر: Boot , E , Hollak , C E M , Huijbregts , S C J , Jahja , R , van Vliet , D , Nederveen , A J , Nieman , D H , Bosch , A M , Bour , L J , Bakermans , A J , Abeling , N G G M , Bassett , A S , van Amelsvoort , T A M J , van Spronsen , F J & Booij , J 2017 , ' Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria ' , Psychological Medicine ....

مصطلحات موضوعية: Dopamine, executive function, impulsivity, monoamines, phenylketonuria, MAGNETIC-RESONANCE-SPECTROSCOPY, CONTINUOUSLY TREATED PHENYLKETONURIA, BRAIN PHENYLALANINE CONCENTRATIONS, VISUAL-EVOKED POTENTIALS, 22Q11 DELETION SYNDROME, GENETIC MOUSE MODEL, HOMOVANILLIC-ACID, AMINO-ACIDS, NEUROPSYCHOLOGICAL TESTS, RECEPTOR AVAILABILITY