Condition: Hyperphenylalaninemia, BH4-Deficient, B


rs104894434 in GCH1 gene and Hyperphenylalaninemia, BH4-Deficient, B PMID 7501255 1995 GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

PMID 9667588 1998 Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

PMID 16917893 2006 Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

PMID 17898029 2008 Frequency of GCH1 deletions in Dopa-responsive dystonia.

PMID 15753436 2005 High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.

PMID 27246466 2017 Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

PMID 20842687 2011 Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter.

PMID 15303002 2004 GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

PMID 10496263 1999 Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.

PMID 17101830 2006 Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.

PMID 19491146 2009 Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

PMID 9749603 1998 Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.

PMID 8619546 1996 GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.

PMID 10457396 1999 A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.

PMID 11486899 2001 A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.

PMID 23211702 2013 Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

PMID 20082337 2010 High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.

PMID 20108370 2010 GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.

PMID 10984670 2000 Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.

PMID 8852666 1996 Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

PMID 19332422 2009 Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

PMID 20491893 2011 A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.