Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Autor: Georg F. Hoffmann, Marjo S. van der Knaap, G.C.H. Steenbergen-Spanjers, Alec Aeby, Johannis B.C. de Klerk, Marcel M. Verbeek, Jan A.M. Smeitink, Fernando Kok, Vincenzo Leuzzi, B. Geurtz, Monique M. Ryan, Frits A. Wijburg, Pierre Rondot, Bridget Wilcken, André Mégarbané, Willy O. Renier, Jürgen Seeger, Pascale de Lonlay, Erik-Jan Kamsteeg, Bernhard Weschke, Hugh Monaghan, Michèl A.A.P. Willemsen, Evangeline Wassmer, Dimitrios I. Zafeiriou, Maria Anna Donati, Ron A. Wevers, Johanneke F. de Rijk-van Andel, Nenad Blau, Martin Haeussler, Alberto Burlina, Padraic Grattan-Smith, Hans H. Jung

Publikováno v: Brain, 133, 1810-1822. Oxford University Press
Willemsen, M A, Verbeek, M M, Kamsteeg, E J, de Rijk-van Andel, J, Aeby, A, Blau, N, Burlina, A, Donati, M A, Geurtz, B, Grattan-Smith, P J, Haeussler, M, Hoffmann, G F, Jung, H, de Klerk, J B, van der Knaap, M S, Kok, F, Leuzzi, V, de Lonlay, P, Megarbane, A, Monaghan, H, Renier, W O, Rondot, P, Ryan, M M, Seeger, J, Smeitink, J A, Steenbergen-Spanjers, G C, Wassmer, E, Weschke, B, Wijburg, F A, Wilcken, B, Zafeiriou, D I & Wevers, R A 2010, ' Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis ', Brain, vol. 133, pp. 1810-1822 . https://doi.org/10.1093/brain/awq087
Brain, 133(Part 6), 1810-1822. Oxford University Press
Brain, 133, 1810-22
Brain, 133, Pt 6, pp. 1810-22

Contains fulltext : 87597.pdf (Publisher’s version ) (Closed access) Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b2fc909acb2bec8118695477fd8172
https://doi.org/10.1093/brain/awq087