Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis (Q43079461)

13 November 2017

title

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis (English)

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Dimitrios I. Zafeiriou

object named as

Dimitrios I Zafeiriou

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Erik-Jan Kamsteeg

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Erik-Jan Kamsteeg

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Frits A Wijburg

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Michèl A Willemsen

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Marcel M Verbeek

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Johanneke F de Rijk-van Andel

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Alec Aeby

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Alberto Burlina

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Maria A Donati

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Ben Geurtz

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Padraic J Grattan-Smith

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Martin Haeussler

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Georg F Hoffmann

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Hans Jung

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Johannis B de Klerk

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Marjo S van der Knaap

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Fernando Kok

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Pascale de Lonlay

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Andre Megarbane

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Hugh Monaghan

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Willy O Renier

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Pierre Rondot

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Jürgen Seeger

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Jan A Smeitink

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Gerry C Steenbergen-Spanjers

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Evangeline Wassmer

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Bernhard Weschke

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Bridget Wilcken

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Ron A Wevers

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language of work or name

English

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publication date

29 April 2010

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13 November 2017

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volume

133

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issue

Pt 6

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page(s)

1810-1822

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A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force

13 November 2017

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Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

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Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

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Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

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Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

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A novel nonneuronal catecholaminergic system: exocrine pancreas synthesizes and releases dopamine

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Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism

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A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

21 January 2018

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Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families

21 January 2018

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Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease

21 January 2018

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Tyrosine hydroxylase deficiency with severe clinical course.

21 January 2018

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Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development

21 January 2018

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Identifiers

DOI

10.1093/BRAIN/AWQ087

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13 November 2017

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