(Q46752768)

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

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

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

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

author name string

Gabriella A Horvath

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Sylvia G Stockler-Ipsiroglu

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Ramona Salvarinova-Zivkovic

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Yolanda P Lillquist

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Mary Connolly

5

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Keith Hyland

6

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Tony Rupar

8

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Paula J Waters

9

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

publication date

13 February 2008

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

Molecular Genetics and Metabolism

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

94

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

1

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

127-131

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Linkage and candidate gene analysis of 14q22-24 in bipolar disorder: support for GCHI as a novel susceptibility gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Molecular genetics of dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Disorders of tetrahydrobiopterin metabolism and their treatment

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.003

7 January 2021

Identifiers

10.1016/J.YMGME.2008.01.003

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18276179

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