Titre:
  • Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Auteur:Willemsen, Michél 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
Informations sur la publication:Brain, 133, Pt 6, page (1810-1822)
Statut de publication:Publié, 2010-06
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Cerebrospinal fluid
Dystonia
L-dopa
Neurotransmitters
Tyrosine hydroxylase
MeSH keywords:Age of Onset
Amino Acid Metabolism, Inborn Errors -- drug therapy -- genetics -- metabolism
Brain -- metabolism
Brain Diseases -- drug therapy -- genetics -- metabolism
Catecholamines -- biosynthesis
Child, Preschool
Disease Progression
Dopamine Agents -- therapeutic use
Homovanillic Acid -- cerebrospinal fluid
Humans
Hydroxyindoleacetic Acid -- cerebrospinal fluid
Hypokinesia -- drug therapy -- genetics -- metabolism
Infant
Levodopa -- therapeutic use
Muscle Rigidity -- drug therapy -- genetics -- metabolism
Mutation, Missense
Phenotype
Promoter Regions, Genetic
Severity of Illness Index
Tyrosine 3-Monooxygenase -- deficiency -- genetics
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0006-8950
info:doi/10.1093/brain/awq087
info:pii/awq087
info:scp/77952995720
info:pmid/20430833