Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.

Pediatric neurology - 1 May 2008

Yum Mi-Sun, Ko Tae-Sung, Yoo Han-Wook, Chung Sun-Ju

Abstract excerpt

Dopa-responsive dystonia in children, including guanosine triphosphate cyclohydrolase I deficiency, is an important subcategory of treatable dystonia characterized by a dramatic, sustained response to levodopa. Early diagnosis is difficult, however, because of the heterogeneity of the clinical phenotype. We report on two Korean children affected with dopa-responsive dystonia caused by a novel missense mutation of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to DNA Mutational Analysis
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Cyclohydrolase

Share to Isoleucine

Share to Mutation

Share to Threonine

Source

Identifiers

PMID: 18410856
DOI: 10.1016/j.pediatrneurol.2008.01.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.PMID 18410856Read ↗

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.Semantic proximity Read ↗

A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.Semantic proximity Read ↗

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.Semantic proximity Read ↗

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.Semantic proximity Read ↗

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).Semantic proximity Read ↗

Dopa-responsive dystonia presenting as delayed and awkward gait.Semantic proximity Read ↗

A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.Semantic proximity Read ↗

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.Semantic proximity Read ↗

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.Semantic proximity Read ↗

Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.Semantic proximity Read ↗

A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.Semantic proximity Read ↗

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.