2024
P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases
Yang J, Chen T, Kao E, Dong J, Lattier J, Dai H, Meng L, Xia F, Schmitt E, Peacock S, Craigen W, Rigobello R, Wong L, Eng C, Wang Y. P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases. Genetics In Medicine Open 2024, 2: 101626. DOI: 10.1016/j.gimo.2024.101626.Peer-Reviewed Original ResearchDiagnosis of mitochondrial diseaseMitochondria genomeMitochondrial diseaseGenomeMitochondriaDeletion
2023
The evolution of the mitochondrial disease diagnostic odyssey
Thompson J, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad K, Buchsbaum R, Rosales X, Hirano M. The evolution of the mitochondrial disease diagnostic odyssey. Orphanet Journal Of Rare Diseases 2023, 18: 157. PMID: 37349818, PMCID: PMC10288668, DOI: 10.1186/s13023-023-02754-x.Peer-Reviewed Original ResearchConceptsElectronic health recordsPrimary care physiciansDiagnostic odysseyNumbers of doctorsSurvey of patientsMitochondrial diagnosisCare physiciansHealth recordsDiagnostic codesMitochondrial disease diagnosisDiagnosis of mitochondrial diseaseAdvocacy groupsAnalyzed responsesLack knowledgeNDOCDisease specialistsMitochondrial diseaseDiagnostic processMedical diagnosisTreatment changesSpecialistsBackgroundMitochondrial diseasesSurveyDiagnosisIncreasing membership
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