A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder
JANSSEN, R. J. R. J., WEVERS, R. A., HÄUSSLER, M., LUYTEN, J. A. F. M., STEENBERGEN-SPANJERS, G. C. H., HOFFMANN, G. F., NAGATSU, T., VAN DEN HEUVEL, L. P. W. J.
Published in Annals of human genetics (01.09.2000)
Published in Annals of human genetics (01.09.2000)
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Conference Proceeding
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.
Published in Journal of inherited metabolic disease (01.06.1999)
Published in Journal of inherited metabolic disease (01.06.1999)
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DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome
Deinum, J, Steenbergen-Spanjers, G C H, Jansen, M, Boomsma, F, Lenders, J W M, van Ittersum, F J, Hück, N, van den Heuvel, L P, Wevers, R A
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
VAN DEN HEUVEL, L. P. W. J, LUITEN, B, SMEITINK, J. A. M, DE RIJK-VAN ANDEL, J. F, HYLAND, K, STEENBERGEN-SPANJERS, G. C. H, JANSSEN, R. J. T, WEVERS, R. A
Published in Human genetics (01.07.1998)
Published in Human genetics (01.07.1998)
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Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase Deficiency
Brautigam, Christa, Steenbergen-Spanjers, Gerry C.H, Hoffmann, Georg F, Dionisi-Vici, Carlo, van den Heuvel, Lambert P.W.J, Smeitink, Jan A.M, Wevers, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.12.1999)
Published in Clinical chemistry (Baltimore, Md.) (01.12.1999)
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Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
VERRIPS, A, STEENBERGEN-SPANJERS, G. C. H, LUYTEN, J. A. F. M, WEVERS, R. A, WOKKE, J. H. J, GABREËLS, F. J. M, WOLTHERS, B. G, VAN DEN HEUVEL, L. P. W. J
Published in Human genetics (01.08.1997)
Published in Human genetics (01.08.1997)
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Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
Luyten, J A, Wenink, P W, Steenbergen-Spanjers, G C, Wevers, R A, Ploos van Amstel, H K, de Jong, J G, van den Heuvel, L P
Published in Human genetics (01.09.1995)
Published in Human genetics (01.09.1995)
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