(Q50889240)

English

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

scientific article published in May 1998

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Rudolf Korinthenberg

3

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

author name string

Steinberger D

1

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Weber Y

2

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Deuschl G

4

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Benecke R

5

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Martinius J

6

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Müller U

7

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

publication date

1 May 1998

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Annals of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

43

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

5

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

634-639

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1002%2FANA.410430512

21 January 2018

Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin

1 reference

https://api.crossref.org/works/10.1002%2FANA.410430512

21 January 2018

Conversion of L-tyrosine to 3,4-dihydroxyphenylalanine by cell-free preparations of brain and sympathetically innervated tissues

1 reference

https://api.crossref.org/works/10.1002%2FANA.410430512

21 January 2018

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

1 reference

https://api.crossref.org/works/10.1002%2FANA.410430512

21 January 2018

Identifiers

10.1002/ANA.410430512

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9585358

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