(Q45149739)

10 December 2017

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

1 reference

10 December 2017

2

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10 December 2017

17

Bressman SB

1 reference

10 December 2017

Saunders-Pullman R

1

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10 December 2017

Hyland K

3

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10 December 2017

Zschocke J

4

1 reference

10 December 2017

Nygaard T

5

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10 December 2017

Raymond D

6

1 reference

10 December 2017

Shanker V

7

1 reference

10 December 2017

Mohrmann K

8

1 reference

10 December 2017

Arnold L

9

1 reference

10 December 2017

Tabbal S

10

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10 December 2017

deLeon D

11

1 reference

10 December 2017

Ford B

12

1 reference

10 December 2017

Brin M

13

1 reference

10 December 2017

Chouinard S

14

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10 December 2017

Ozelius L

15

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10 December 2017

Klein C

16

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10 December 2017

1 November 2004

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Molecular Genetics and Metabolism

10 December 2017

1 reference

10 December 2017

83

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10 December 2017

3

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10 December 2017

207-212

1 reference

Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family

10 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Dopa-responsive dystonia: recent advances and remaining issues to be addressed.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

International database of tetrahydrobiopterin deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Tetrahydrobiopterin biosynthesis, regeneration and functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

The phenylalanine loading test in the differential diagnosis of dystonia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Dopa-responsive dystonia: A clinical and molecular genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Phenylketonuria mutations in Germany

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.010

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.2004.07.010

10.1016/J.YMGME.2004.07.010

7 January 2021

Identifiers

DOI

1 reference

10 December 2017

1 reference