Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders (Q26852309)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25011953%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

S J R Heales

2

S J R

Heales

1 reference

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11 June 2020

M A Kurian

series ordinal

3

author given names

M A

author last names

Kurian

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11 June 2020

language of work or name

1 reference

August 2014

1 reference

1 August 2014

6 references

25 April 2019

9 September 2019

17 September 2019

2 October 2019

7 November 2019

21 April 2021

8 references

25 April 2019

9 September 2019

17 September 2019

2 October 2019

7 November 2019

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11 June 2020

21 April 2021

16

2 references

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11 June 2020

issue

4

2 references

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11 June 2020

page(s)

275-291

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Creative Commons Attribution-NonCommercial 4.0 International

11 June 2020

copyright license

1 reference

https://scigraph.springernature.com/pub.10.1007/s40272-014-0079-z

21 April 2021

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0 references

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Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states

28 September 2017

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Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

28 September 2017

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Movement disorders in children: recent advances in management

28 September 2017

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A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency

28 September 2017

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Quantitative regulation of intracellular endothelial nitric-oxide synthase (eNOS) coupling by both tetrahydrobiopterin-eNOS stoichiometry and biopterin redox status: insights from cells with tet-regulated GTP cyclohydrolase I expression

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis

28 September 2017

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28 September 2017

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31 May 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up

31 May 2018

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Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

21 January 2018

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Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

21 January 2018

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Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

21 January 2018

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The long-term response to levodopa in dopa-responsive dystonia

21 January 2018

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Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice

21 January 2018

1 reference

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Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

21 January 2018

1 reference

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An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

21 January 2018

1 reference

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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

21 January 2018

1 reference

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Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

21 January 2018

1 reference

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Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

21 January 2018

1 reference

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Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

21 January 2018

1 reference

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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

21 January 2018

1 reference

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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

21 January 2018

1 reference

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Aromatic L-amino acid decarboxylase deficiency in Taiwan

21 January 2018

1 reference

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

21 January 2018

1 reference

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Instability of the apo form of aromatic L-amino acid decarboxylase in vivo and in vitro: implications for the involvement of the flexible loop that covers the active site

21 January 2018

1 reference

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3,4-dihydroxyphenylalanine reverses the motor deficits in Pitx3-deficient aphakia mice: behavioral characterization of a novel genetic model of Parkinson's disease.

21 January 2018

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Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice

21 January 2018

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Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

21 January 2018

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What is the role of dopamine in childhood neurological disorders?

21 January 2018

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Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

21 January 2018

1 reference

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Tetrabenazine-induced depletion of brain monoamines: characterization and interaction with selected antidepressants.

21 January 2018

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Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

21 January 2018

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Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

21 January 2018

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Gene therapy for aromatic L-amino acid decarboxylase deficiency

21 January 2018

1 reference

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Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

28 November 2018

1 reference

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Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency

28 November 2018

1 reference

12 December 2020

1 reference

12 December 2020

Dopamine agonists in dihydropteridine reductase deficiency

1 reference

12 December 2020

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

1 reference

12 December 2020

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

12 December 2020

Serotonin and vasoconstrictor synergism

1 reference

12 December 2020

Treatment of dystonia

1 reference

12 December 2020

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

1 reference

12 December 2020

Secondary abnormalities of neurotransmitters in infants with neurological disorders

1 reference

12 December 2020

Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.

1 reference

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1007/S40272-014-0079-Z

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25011953%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

1024172257

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25011953%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25011953%20AND%20SRC:MED&resulttype=core&format=json