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

Topics Community

Article

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

1 Oct 2003

Abstract excerpt

No abstract is available from the source.

Topics

Join the communities discussing this publication.

Biochemical Acid Research Studies
Lipid metabolism and biosynthesis
Lipid metabolism and disorders

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 12925875
DOI: 10.1007/s00431-003-1282-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationPMID 12925875Read ↗

Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanismSemantic proximity Read ↗

Adult-Onset Leigh Syndrome Due to an m.13513G>A Mutation.Semantic proximity Read ↗

SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease.Semantic proximity Read ↗

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.Semantic proximity Read ↗

Leigh disease due to SCO2 mutations revealed at extended autopsy.Semantic proximity Read ↗

[Maternally inherited Leigh syndrome].Semantic proximity Read ↗

A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.Semantic proximity Read ↗

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.Semantic proximity Read ↗

Biochemical defects and genetic abnormalities in cytochrome c oxidase of patients with Leigh syndrome.Semantic proximity Read ↗

STAR gene mutation in a patient with congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.Semantic proximity Read ↗

[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].Semantic proximity Read ↗

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