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

Clinical presentation of mitochondrial disorders in childhood.

Journal of inherited metabolic disease - 1 Jan 1996

Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont J P, Saudubray J M, Rustin P

Abstract excerpt

Respiratory-chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only in the neuromuscular system. Indeed, a number of non-neuromuscular organs and tissues are...

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, Mitochondrial
Share to Electron Transport

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Liver Diseases

Share to Metabolism, Inborn Errors

Share to Mutation

Share to Neuromuscular Diseases

Share to Oxidative Phosphorylation

Source

Identifiers

PMID: 8884575
DOI: 10.1007/BF01799112

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8884575-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical presentation of mitochondrial disorders in childhood.PMID 8884575Read ↗

Clinical spectrum and diagnosis of mitochondrial disorders.Semantic proximity Read ↗

Clinical presentations and laboratory investigations in respiratory chain deficiency.Semantic proximity Read ↗

[Mitochondrial diseases. Clinical features, investigation and genetics].Semantic proximity Read ↗

Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration.Semantic proximity Read ↗

Presentation and diagnosis of mitochondrial disorders in children.Semantic proximity Read ↗

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children.Semantic proximity Read ↗

Complex neurological and multisystem presentations in mitochondrial disease.Semantic proximity Read ↗

Mitochondrial disease in children.Semantic proximity Read ↗

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.Semantic proximity Read ↗

[The complex clinical presentation of hereditary mitochondrial diseases].Semantic proximity Read ↗

Disorders of mitochondrial function.Semantic proximity Read ↗

An overview of neurological and neuromuscular signs in mitochondrial diseases.Semantic proximity Read ↗

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