A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
Wevers, R. A., Rijk‐van Andel, J. F., Bräutigam, C., Geurtz, B., Heuvel, L. P. W. J., Steenbergen‐Spanjers, G. C. H., Smeitink, J. A. M., Hoffmann, G. F., Gabreëls, F. J. M.
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Published in Journal of inherited metabolic disease (01.06.1999)
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Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: The unsolved paradox
Wassenberg, T., Willemsen, M.A.A.P., Geurtz, P.B.H., Lammens, M., Verrijp, K., Wilmer, M., Lee, W.T., Wevers, R.A., Verbeek, M.M.
Published in Molecular genetics and metabolism (01.12.2010)
Published in Molecular genetics and metabolism (01.12.2010)
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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Willemsen, Michèl A., Verbeek, Marcel M., Kamsteeg, Erik-Jan, de Rijk-van Andel, Johanneke F., Aeby, Alec, Blau, Nenad, Burlina, Alberto, Donati, Maria A., Geurtz, Ben, Grattan-Smith, Padraic J., Haeussler, Martin, Hoffmann, Georg F., Jung, Hans, de Klerk, Johannis B., van der Knaap, Marjo S., Kok, Fernando, Leuzzi, Vincenzo, de Lonlay, Pascale, Megarbane, Andre, Monaghan, Hugh, Renier, Willy O., Rondot, Pierre, Ryan, Monique M., Seeger, Jürgen, Smeitink, Jan A., Steenbergen-Spanjers, Gerry C., Wassmer, Evangeline, Weschke, Bernhard, Wijburg, Frits A., Wilcken, Bridget, Zafeiriou, Dimitrios I., Wevers, Ron A.
Published in Brain (London, England : 1878) (01.06.2010)
Published in Brain (London, England : 1878) (01.06.2010)
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Aromatic l-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes
Verbeek, M.M., Geurtz, P.B.H., Willemsen, M.A.A.P., Wevers, R.A.
Published in Molecular genetics and metabolism (01.04.2007)
Published in Molecular genetics and metabolism (01.04.2007)
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The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained
Wassenberg, Tessa, Monnens, Leo A. H., Geurtz, Ben P. B. H., Wevers, Ron A., Verbeek, Marcel M., Willemsen, Michèl A. A. P.
Published in JIMD Reports - Case and Research Reports, 2012/1 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/1 (01.01.2012)
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Book Chapter
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Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants
Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.
Published in JIMD reports (01.03.2021)
Published in JIMD reports (01.03.2021)
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