(Q33688338)

28 July 2017

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title

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

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28 July 2017

Wevers RA

1

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Fons John Marie Gabreëls

9

object named as

Gabreëls FJ

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28 July 2017

de Rijk-van Andel JF

2

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28 July 2017

Bräutigam C

3

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28 July 2017

Geurtz B

4

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28 July 2017

van den Heuvel LP

5

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28 July 2017

Steenbergen-Spanjers GC

6

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28 July 2017

Smeitink JA

7

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28 July 2017

Hoffmann GF

8

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28 July 2017

publication date

1 June 1999

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Journal of Inherited Metabolic Disease

28 July 2017

published in

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28 July 2017

volume

22

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28 July 2017

issue

4

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28 July 2017

page(s)

364-373

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Crystal structure of tyrosine hydroxylase at 2.3 A and its implications for inherited neurodegenerative diseases

28 July 2017

cites work

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and characterization of the human tyrosine hydroxylase gene: identification of 5' alternative splice sites responsible for multiple mRNAs

1 reference

12 December 2020

Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals

1 reference

12 December 2020

Cerebrospinal fluid neurotransmitter metabolites in neurologically normal infants and children

1 reference

12 December 2020

Concentration gradients of monoamine metabolites in human cerebrospinal fluid

1 reference

12 December 2020

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

1 reference

12 December 2020

Targeted Disruption of the Tyrosine Hydroxylase Locus Results in Severe Catecholamine Depletion and Perinatal Lethality in Mice

1 reference

12 December 2020

Tyrosine hydroxylase maps to the short arm of chromosome 11 proximal to the insulin and HRAS1 loci

1 reference

12 December 2020

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics

1 reference

12 December 2020

Effect of eating bananas on plasma free and sulfate-conjugated catecholamines

1 reference

12 December 2020

Acidic catecholamine metabolites and 5-hydroxyindoleacetic acid in urine: the influence of diet

1 reference

12 December 2020

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

1 reference

12 December 2020

New species of human tyrosine hydroxylase mRNA are produced in variable amounts in adrenal medulla and are overexpressed in progressive supranuclear palsy

1 reference

12 December 2020

Localization of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways

1 reference

12 December 2020

Isolation of a novel cDNA clone for human tyrosine hydroxylase: alternative RNA splicing produces four kinds of mRNA from a single gene

1 reference

12 December 2020

Frequent sequence variant in the human tyrosine hydroxylase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Concentration gradient of CSF monoamine metabolites in children and adolescents.

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005539803576

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Dimensions Publication ID

28 July 2017

1014170997

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