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

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

28 May 2021

Abstract excerpt

OBJECTIVE: We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditional indicators of mitochondrial disease predict a confirmed genetic diagnosis. METHODS: We investigated a cohort of...

Read the complete abstract on PubMed

Topics

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

Share to GDF15 and Related Biomarkers
Share to Genetic Neurodegenerative Diseases
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34056100
DOI: 10.1212/nxg.0000000000000597

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPMID 34056100Read ↗

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomesSemantic proximity Read ↗

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.Semantic proximity Read ↗

Mitochondrial genetic diseasesSemantic proximity Read ↗

Pathology of Adult and Paediatric Mitochondrial MyopathiesSemantic proximity Read ↗

Mitochondrial disease in children.Semantic proximity Read ↗

Targeted exome sequencing of suspected mitochondrial disorders.Semantic proximity Read ↗

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.Semantic proximity Read ↗

Recognition, investigation and management of mitochondrial disease.Semantic proximity Read ↗

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.Semantic proximity Read ↗

Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicineSemantic proximity Read ↗

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.Semantic proximity Read ↗

Mitochondrial Diseases: A Diagnostic Revolution.Semantic proximity Read ↗

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