Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency

Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenotypes: an infantile progressive hypokinetic-rigid syndrome with dystonia (type A) and a neonatal complex encephalopathy (type B). The biochemical diagnostics is exclusively based on the quantitative de...

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Bibliografische Detailangaben

Hauptverfasser:	K. Szentiványi, H. Hansíková, J. Krijt, K. Vinšová, M. Tesařová, E. Rozsypalová, P. Klement, J. Zeman, Tomáš Honzík
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Karolinum Press 2012-01-01
Schriftenreihe:	Prague Medical Report
Schlagworte:	Cerebrospinal fluid Liquid chromatography Neurotransmitter disorder Tyrosine hydroxylase
Online-Zugang:	https://pmr.lf1.cuni.cz/113/2/0136/
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