Article
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Brain : a journal of neurology - 1 Jun 2010
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
Abstract excerpt
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than 40 patients worldwide. To recapitulate all available evidence on clinical phenotypes and rational diagnostic and therapeutic approaches for this devastating, but treatable, neurometabolic disorder, we studied 36 patients with tyrosine...
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