Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether the heterozygous GTPCH missense mutation p.Leu117Arg identified from a patient with severe infancy-onset dopa-responsive motor impairments is causative and establish a clinical relevant GTPCH deficiency mouse model, we generated a mouse mutant mimicking this missense mutation using the CRISPR/Cas9 technology.
|
30742839 |
2019 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
|
27246466 |
2017 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
|
27830117 |
2016 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
|
23211702 |
2013 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter.
|
20842687 |
2011 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.
|
21935284 |
2011 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
|
20491893 |
2011 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
|
20082337 |
2010 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
|
20108370 |
2010 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
|
19332422 |
2009 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
|
19491146 |
2009 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Frequency of GCH1 deletions in Dopa-responsive dystonia.
|
17898029 |
2008 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
|
18276179 |
2008 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
|
17101830 |
2006 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
|
16917893 |
2006 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
Biomarker
|
disease |
BEFREE |
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
|
16267845 |
2006 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
|
15753436 |
2005 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
|
15753436 |
2005 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
|
15753436 |
2005 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
|
15303002 |
2004 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Recessively inherited deficiency of TH was recently identified and incorporated into recent concepts of genetic dystonias as the cause of recessive Dopa-responsive dystonia or Segawa's syndrome in analogy to dominantly inherited GTP cyclohydrolase I deficiency.
|
12891655 |
2003 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
|
11486899 |
2001 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
|
10984670 |
2000 |
Hyperphenylalaninemia, BH4-Deficient, B
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
To explore the molecular etiology of two disorders caused by a defect in GTP cyclohydrolase I--hereditary progressive dystonia with marked diurnal fluctuation (HPD), also known as dopa-responsive dystonia (DRD), and autosomal recessive GTP cyclohydrolase I deficiency--we purified and analyzed recombinant human wild-type and mutant GTP cyclohydrolase I proteins expressed in Escherichia coli.
|
10582612 |
1999 |