6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

Item
http://www.wikidata.org/entity/Q28238704
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaGenetic diagnosis of two dopa-responsive dystonia families by exome sequencingDifferential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.New perspectives on dystonia.Basal Ganglia disorders associated with imbalances in the striatal striosome and matrix compartments.Convergent mechanisms in etiologically-diverse dystoniasAnimal models for dystonia.Pallidopyramidal disease: a misnomer?Milestones in dystonia.Dopa-responsive dystonia--clinical and genetic heterogeneity.Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.Dopa-responsive dystonia: recent advances and remaining issues to be addressed.
P2860

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

Item
http://www.wikidata.org/entity/Q28238704
description
1997 nî lūn-bûn
@nan
1997 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@ast
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@en
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@nl
type
label
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@ast
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@en
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@nl
prefLabel
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@ast
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@en
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
6-Pyruvoyl-tetrahydropterin sy ...... a clinical and molecular study
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698