Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia by Hoffmann, Georg F., Assmann, Birgit, Bräutigam, Christa, Dionisi-Vici, Carlo, Häussler, Martin, De Klerk, Johannes B. C., Naumann, Markus, Steenbergen-Spanjers, Gerry C. H., Strassburg, Hans-Michael, Wevers, Ron A.

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Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene by Verbeek, Marcel M., Steenbergen-Spanjers, Gerry C. H., Willemsen, Michèl A. A. P., Hol, Frans A., Smeitink, Jan, Seeger, Jürgen, Grattan-Smith, Padraic, Ryan, Monique M., Hoffmann, Georg F., Donati, Maria A., Blau, Nenad, Wevers, Ronald A.

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Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis by Verrips, Aad, Hoefsloot, Lies H., Steenbergen, Gerry C. H., Theelen, Joop P., Wevers, Ron A., Gabreëls, Fons J. M., van Engelen, Baziel G. M., van den Heuvel, Lambert P. W. J.

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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population by 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

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Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase Deficiency by 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

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Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis by 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

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Metachromatic leukodystrophy : a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant by LUYTEN, J. A. F. M, WENINK, P. W, STEENBERGEN-SPANJERS, G. C. H, WEVERS, R. A, PLOOS VAN AMSTEL, H. K, DE JONG, J. G. N, VAN DEN HEUVEL, L. P. W. J

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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation by Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.

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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis by 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.

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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation by Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation by Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.

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