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

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

Brain : a journal of neurology - 1 Oct 2005

Neville B G R, Parascandalo R, Farrugia R, Felice A

Abstract excerpt

This study presents the clinical findings on seven children from Malta (population 385,000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of the motor impairments was clear in six out of seven of the subjects and oculogyric crises occurred...

Read the complete abstract on PubMed

Topics

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

Share to Alcohol Oxidoreductases
Share to Cerebral Palsy
Share to Circadian Rhythm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Dopamine Agents

Share to Dyskinesias

Share to Levodopa

Share to Movement Disorders

Source

Identifiers

PMID: 16049044
DOI: 10.1093/brain/awh603

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16049044-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.PMID 16049044Read ↗

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.Semantic proximity Read ↗

Sepiapterin reductase deficiency: Report of 5 new cases.Semantic proximity Read ↗

Segawa's disease: dopa-responsive dystonia.Semantic proximity Read ↗

Disorders of Tetrahydrobiopterin Metabolism: Experience from South IndiaSemantic proximity Read ↗

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.Semantic proximity Read ↗

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

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

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.Semantic proximity Read ↗

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.Semantic proximity Read ↗

Broadening the phenotype of childhood-onset dopa-responsive dystonia.Semantic proximity Read ↗

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.Semantic proximity Read ↗

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