Dystonia with marked diurnal variation associated with biopterin deficiency.

Dystonia with marked diurnal variation associated with biopterin deficiency.

Item
http://www.wikidata.org/entity/Q43491688
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular studyTyrosine hydroxylase and Parkinson's diseaseCSF dopamine, serotonin, and biopterin metabolites in patients with restless legs syndrome.Successful treatment of childhood onset symptomatic dystonia with levodopa.Lessons from a remarkable family with dopa-responsive dystonia.Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy.Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia.Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia.Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism.GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice.Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.Dopa-responsive dystonia: [18F]dopa positron emission tomography.Dopa-responsive parkinsonism with normal 6[18F]-fluorodopa positron emission tomography scans.Dopa-responsive dystonia: A clinical and molecular genetic study
P2860

Dystonia with marked diurnal variation associated with biopterin deficiency.

Item
http://www.wikidata.org/entity/Q43491688
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
1988年學術文章
@zh-hant
name
Dystonia with marked diurnal variation associated with biopterin deficiency.
@en
Dystonia with marked diurnal variation associated with biopterin deficiency.
@nl
type
label
Dystonia with marked diurnal variation associated with biopterin deficiency.
@en
Dystonia with marked diurnal variation associated with biopterin deficiency.
@nl
prefLabel
Dystonia with marked diurnal variation associated with biopterin deficiency.
@en
Dystonia with marked diurnal variation associated with biopterin deficiency.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Dystonia with marked diurnal variation associated with biopterin deficiency.
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698