(Q46622458)

23 December 2017

title

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

1 reference

23 December 2017

sepiapterin reductase deficiency

main subject

0 references

author name string

Neville BG

1

1 reference

23 December 2017

Parascandalo R

2

1 reference

23 December 2017

Farrugia R

3

1 reference

23 December 2017

Felice A

4

1 reference

23 December 2017

language of work or name

English

0 references

publication date

27 July 2005

1 reference

23 December 2017

published in

Brain

1 reference

23 December 2017

volume

128

1 reference

23 December 2017

issue

Pt 10

1 reference

23 December 2017

page(s)

2291-2296

1 reference

23 December 2017

International database of tetrahydrobiopterin deficiencies

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

Comparative in vivo expression of beta(+)-thalassemia alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH603

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWH603

1 reference

23 December 2017

1 reference

23 December 2017