MR spectroscopy of the brain in Leigh syndrome
Sijens, P.E, Smit, G.P.A, Rödiger, L.A, van Spronsen, F.J, Oudkerk, M, Rodenburg, R.J, Lunsing, R.J
Published in Brain & development (Tokyo. 1979) (01.10.2008)
Published in Brain & development (Tokyo. 1979) (01.10.2008)
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Pyridoxine-dependent epilepsy (PDE): Diagnostic and therapeutic queries
Lunsing, R.J, van Spronsen, F.J, Bok, L.A, Struys, E.A, van Karnebeek, C.D
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Bok, L.A, de Rooy, R.L.P, Halbertsma, F.J, Struys, E.A, van Spronsen, F.J, Lunsing, R.J, Schippers, H.M, van Hasselt, P.M, Plecko, B, Wohlrab, G, Wahlen, S, Benoist, J.F, Valence, S
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Animal models of brain dysfunction in phenylketonuria
Martynyuk, A.E., van Spronsen, F.J., Van der Zee, E.A.
Published in Molecular genetics and metabolism (2010)
Published in Molecular genetics and metabolism (2010)
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Journal Article
1H MR spectroscopy of the brain in Cr transporter defect
Sijens, P.E., Verbruggen, K.T., Oudkerk, M., van Spronsen, F.J., Soorani-Lunsing, R.J.
Published in Molecular genetics and metabolism (01.11.2005)
Published in Molecular genetics and metabolism (01.11.2005)
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Journal Article
The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations
van Vliet, D., van der Goot, E., van Ginkel, W.G., van Faassen, H.J.R., de Blaauw, P., Kema, I.P., Heiner-Fokkema, M.R., van der Zee, E.A., van Spronsen, F.J.
Published in Molecular genetics and metabolism (01.01.2022)
Published in Molecular genetics and metabolism (01.01.2022)
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Journal Article
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
Molema, F., Haijes, H.A., Janssen, M.C., Bosch, A.M., van Spronsen, F.J., Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J.M., van der Ploeg, A.T., Wagenmakers, M.A., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., de Vries, M.C., Fuchs, S., Langendonk, J.G., Rizopoulos, D., van Hasselt, P.M., Williams, M.
Published in Clinical nutrition (Edinburgh, Scotland) (01.05.2021)
Published in Clinical nutrition (Edinburgh, Scotland) (01.05.2021)
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Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
Strijker, M., Tseng, L.A., van Avezaath, L.K., Oude Luttikhuis, M.A.M., Ketelaar, T., Coughlin, C.R., Coenen, M.A., van Spronsen, F.J., Williams, M., de Vries, M.C., Westerlaan, H.E., Bok, L.A., van Karnebeek, C.D.M., Lunsing, R.J.
Published in European journal of paediatric neurology (01.07.2021)
Published in European journal of paediatric neurology (01.07.2021)
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Journal Article
Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing
van Spronsen, F J, van Rijn, M, van Dijk, T, Smit, G P, Reijngoud, D J, Berger, R, Heymans, H S
Published in Pediatrics (Evanston) (01.10.1993)
Published in Pediatrics (Evanston) (01.10.1993)
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Journal Article
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
Evers, R.A.F., van Wegberg, A.M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A.M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S.C.J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A.C., Rocha, J.C., Romani, C., Trefz, F.K., MacDonald, A., van Spronsen, F.J.
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets
MacDonald, A., van Rijn, M., Feillet, F., Lund, A.M., Bernstein, L., Bosch, A.M., Gizewska, M., van Spronsen, F.J.
Published in Annals of nutrition and metabolism (01.01.2012)
Published in Annals of nutrition and metabolism (01.01.2012)
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Journal Article
Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development
van Spronsen, F.J., Huijbregts, S.C.J., Bosch, A.M., Leuzzi, V.
Published in Molecular genetics and metabolism (2011)
Published in Molecular genetics and metabolism (2011)
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Journal Article
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
de Rooy, R.L.P., Halbertsma, F.J., Struijs, E.A., van Spronsen, F.J., Lunsing, R.J., Schippers, H.M., van Hasselt, P.M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J.F., Valence, S., Mills, P.B., Bok, L.A.
Published in European journal of paediatric neurology (01.07.2018)
Published in European journal of paediatric neurology (01.07.2018)
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Journal Article
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
Mohamed, M., Guillard, M., Wortmann, S.B., Cirak, S., Marklova, E., Michelakakis, H., Korsch, E., Adamowicz, M., Koletzko, B., van Spronsen, F.J., Niezen-Koning, K.E., Matthijs, G., Gardeitchik, T., Kouwenberg, D., Lim, B. Chan, Zeevaert, R., Wevers, R.A., Lefeber, D.J., Morava, E.
Published in Biochimica et biophysica acta (01.06.2011)
Published in Biochimica et biophysica acta (01.06.2011)
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The neuropsychological profile of early and continuously treated phenylketonuria: orienting, vigilance, and maintenance versus manipulation-functions of working memory
Huijbregts, S.C.J, de Sonneville, L.M.J, van Spronsen, F.J, Licht, R, Sergeant, J.A
Published in Neuroscience and Biobehavioral Reviews (01.10.2002)
Published in Neuroscience and Biobehavioral Reviews (01.10.2002)
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Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations
Huijbregts, S.C.J, de Sonneville, L.M.J, Licht, R, van Spronsen, F.J, Verkerk, P.H, Sergeant, J.A
Published in Neuropsychologia (2002)
Published in Neuropsychologia (2002)
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