(Q46090495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282209%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Tyrosine hydroxylase deficiency with severe clinical course (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282209%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author

Dimitrios I. Zafeiriou

1

1 reference

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23 January 2020

author name string

M A Willemsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282209%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

M M Verbeek

3

1 reference

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23 January 2020

E Vargiami

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282209%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

A Ververi

5

1 reference

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23 January 2020

R Wevers

6

1 reference

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23 January 2020

publication date

10 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282209%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

23 January 2020

published in

1 reference

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23 January 2020

volume

97

1 reference

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23 January 2020

issue

1

1 reference

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23 January 2020

page(s)

18-20

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

23 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.02.001