Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
about
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disordersDtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolismMutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogasterThe analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse modelsA Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.Dopa-responsive dystonia in a ten-year-old girl.An unusual presentation of tyrosine hydroxylase deficiency.Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia.
P2860
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P2860
Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@ast
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@en
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@nl
type
label
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@ast
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@en
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@nl
prefLabel
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@ast
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@en
Autosomal dominant GTP cyclohy ...... a disease, dystonia 5; DYT 5).
@nl
P1476
Autosomal dominant GTP cyclohy ...... wa disease, dystonia 5; DYT 5)
@en
P2093
Masaya Segawa
P577
2009-01-01T00:00:00Z