Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency (Q39084964)

8 September 2017

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency (English)

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8 September 2017

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4

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10 June 2020

Sofia Duarte

2

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10 June 2020

Rafael Artuch

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10 June 2020

author name string

C Ortez

1

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10 June 2020

A Ormazábal

3

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10 June 2020

A Pérez

5

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10 June 2020

R Pons

6

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10 June 2020

M Pineda

7

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10 June 2020

Z Yapici

8

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10 June 2020

E Fernández-Álvarez

9

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10 June 2020

R Domingo-Jiménez

10

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10 June 2020

P De Castro

11

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10 June 2020

A García-Cazorla

13

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10 June 2020

publication date

31 October 2014

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Molecular Genetics and Metabolism

8 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25468651%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

114

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10 June 2020

issue

1

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10 June 2020

page(s)

34-40

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

10 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

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.2014.10.014

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Tyrosine hydroxylase deficiency in Taiwanese infants.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

A biochemical and functional protein complex involving dopamine synthesis and transport into synaptic vesicles.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Age-dependent differences in dopamine transporter and vesicular monoamine transporter-2 function and their implications for methamphetamine neurotoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Getting specialized: presynaptic and postsynaptic dopamine D2 receptors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Dopamine receptor functions: lessons from knockout mice [corrected].

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Dopamine receptor mRNA and protein expression in the mouse corpus striatum and cerebral cortex during pre- and postnatal development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Development of neurotransmitter systems during critical periods.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Striatal plasticity in Parkinson's disease and L-dopa induced dyskinesia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

Dopamine-mediated regulation of corticostriatal synaptic plasticity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

A role for dopamine-mediated learning in the pathophysiology and treatment of Parkinson's disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.10.014

10.1016/J.YMGME.2014.10.014

7 January 2021

Identifiers

DOI

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release_qxcjwchutrfs7a63gjecdieykq

10 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qxcjwchutrfs7a63gjecdieykq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

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