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Please use this identifier to cite or link to this item: https://nslhd.intersearch.com.au/nslhdjspui/handle/1/33704
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DC FieldValueLanguage
dc.contributor.authorParikh, Sumiten
dc.contributor.authorKaraa, Amelen
dc.contributor.authorGoldstein, Amyen
dc.contributor.authorBertini, Enrico Silvioen
dc.contributor.authorChinnery, Patrick Fen
dc.contributor.authorChristodoulou, Johnen
dc.contributor.authorCohen, Bruce Hen
dc.contributor.authorDavis, Ryan Len
dc.contributor.authorFalk, Marni Jen
dc.contributor.authorFratter, Carlen
dc.contributor.authorHorvath, Ritaen
dc.contributor.authorKoenig, Mary Kayen
dc.contributor.authorMancuso, Michaelangeloen
dc.contributor.authorMcCormack, Shanaen
dc.contributor.authorMcCormick, Elizabeth Men
dc.contributor.authorMcFarland, Roberten
dc.contributor.authorNesbitt, Victoriaen
dc.contributor.authorSchiff, Manuelen
dc.contributor.authorSteele, Hannahen
dc.contributor.authorStockler, Silviaen
dc.contributor.authorSue, Carolynen
dc.contributor.authorTarnopolsky, Marken
dc.contributor.authorThorburn, David Ren
dc.contributor.authorVockley, Jerryen
dc.contributor.authorRahman, Shamimaen
dc.date.accessioned2021-06-17T08:18:43Z-
dc.date.available2021-06-17T08:18:43Z-
dc.date.issued2019-03-
dc.identifier.citation56(3):123-130en
dc.identifier.urihttps://nslhd.intersearch.com.au/nslhdjspui/handle/1/33704-
dc.description.abstractPrimary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.en
dc.languageenen
dc.language.isoenen
dc.relation.ispartofJournal of Medical Geneticsen
dc.titleDiagnosis of 'possible' mitochondrial disease: an existential crisisen
dc.typeArticleen
dc.identifier.affiliationRoyal North Shore Hospitalen
dc.identifier.doi10.1136/jmedgenet-2018-105800-
dc.description.pages123-130en
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pubmed/30683676en
dc.relation.urlhttps://jmg.bmj.com/content/56/3/123en
dc.subject.keywordsmetabolic disordersen
dc.subject.keywordsevidence based practiceen
dc.subject.keywordsclinical geneticsdiagnosisen
dc.subject.ahtMetabolic disordersen
dc.subject.ahtClinical geneticsen
dc.subject.ahtEvidence-based practiceen
local.editedby.nameHN 300822en
dc.relation.departmentNeurologyen
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.openairetypeArticle-
item.cerifentitytypePublications-
item.grantfulltextnone-
crisitem.author.deptNorthern Sydney Local Health District-
crisitem.author.deptRoyal North Shore Hospital-
crisitem.author.deptNeurology-
Appears in Collections:Research Publications
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