(Q43938520)

28 November 2017

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy (English)

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28 November 2017

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2

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28 November 2017

Padraic J Grattan-Smith

1

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28 November 2017

Gerry C Steenbergen-Spanjers

3

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28 November 2017

Victor S C Fung

4

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28 November 2017

John Earl

5

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28 November 2017

Bridget Wilcken

6

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28 November 2017

language of work or name

English

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publication date

1 March 2002

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28 November 2017

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28 November 2017

17

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28 November 2017

354-359

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28 November 2017

2

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

28 November 2017

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

21 January 2018

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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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Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

21 January 2018

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

21 January 2018

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L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

21 January 2018

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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

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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Successful long term therapy of biopterin deficiency

21 January 2018

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Physiological and pathological tremors and rhythmic central motor control

21 January 2018

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Report of IFCN Committee on Basic Mechanisms. Basic mechanisms of cerebral rhythmic activities

21 January 2018

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Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations

21 January 2018

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

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.

21 January 2018

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Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

21 January 2018

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Oculogyric crisis: a syndrome of thought disorder and ocular deviation

21 January 2018

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Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome

21 January 2018

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Dopamine-beta-hydroxylase deficiency in humans.

21 January 2018

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Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation

21 January 2018

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Restoration of norepinephrine and reversal of phenotypes in mice lacking dopamine beta-hydroxylase

21 January 2018

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Apraxia of lid opening: a review

21 January 2018

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Cerebrospinal fluid investigations for neurometabolic disorders.

21 January 2018

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Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

21 January 2018

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Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect

21 January 2018

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Dopa-responsive dystonia simulating cerebral palsy

21 January 2018

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Parkinsonism, dystonia, and hemiatrophy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.10095

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28 November 2017

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