Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
about
The pediatric neurotransmitter disordersDifferential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brainElevated plasma phenylalanine in severe malaria and implications for pathophysiology of neurological complications.Which neuroprotective agents are ready for bench to bedside translation in the newborn infant?Clinical spectrum of dopa-responsive dystonia and related disordersAssessment of patients with isolated or combined dystonia: an update on dystonia syndromes.The catecholamine system in health and disease -Relation to tyrosine 3-monooxygenase and other catecholamine-synthesizing enzymes.Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.GCH1, BH4 and painDyskinesias as a limiting factor in the treatment of Segawa disease.Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.Invertebrate models of dystonia.Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.Genetic mutations that prevent pain: implications for future pain medication.Update on the pathology of dystonia.The genetics of dystonia: new twists in an old tale.Primary dystonia: moribund or viable.Complex molecular regulation of tyrosine hydroxylase.Dopa-responsive dystonia--clinical and genetic heterogeneity.Combining Human and Rodent Genetics to Identify New Analgesics.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.Dopa-responsive dystonia in a ten-year-old girl.Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.Impaired sleep quality and restless legs syndrome in idiopathic focal dystonia: a controlled study.Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia.Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD).Atypical presentation of dopa‐responsive dystonia in Taiwan.Electromyographic and Joint Kinematic Patterns in Runner's Dystonia.Premotor-motor excitability is altered in dopa-responsive dystonia.Neuropsychological Difficulties Associated with Dopa Responsive Dystonia.
P2860
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P2860
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@ast
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@en
type
label
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@ast
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@en
prefLabel
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@ast
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@en
P2093
P356
P1433
P1476
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
@en
P2093
Masaya Segawa
Nobuyoshi Nishiyama
Yoshiko Nomura
P304
P356
10.1002/ANA.10630
P478
54 Suppl 6
P577
2003-01-01T00:00:00Z