(Q46575973)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18502672%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Two Greek siblings with sepiapterin reductase deficiency (English)

1 reference

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7 January 2020

1 reference

sepiapterin reductase deficiency

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author

Nenad Blau

6

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7 January 2020

Dimitrios I. Zafeiriou

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18502672%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Marcel M Verbeek

1

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7 January 2020

Michel A A P Willemsen

2

1 reference

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7 January 2020

Ron A Wevers

3

1 reference

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7 January 2020

Aart J Lagerwerf

4

1 reference

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7 January 2020

Nico G G M Abeling

5

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7 January 2020

Beat Thöny

7

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7 January 2020

Euthymia Vargiami

8

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7 January 2020

publication date

27 May 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18502672%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

7 January 2020

published in

1 reference

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7 January 2020

volume

94

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7 January 2020

issue

4

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7 January 2020

page(s)

403-409

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Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Cerebrospinal fluid analysis differentiates multiple system atrophy from Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Sequence and expression levels in human tissues of a new member of the aldo-keto reductase family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Dihydrofolate reductase-activity in brain tissue. Effect of X-irradiation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Human 3alpha-hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.003

10.1016/J.YMGME.2008.04.003

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18502672%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference