Please use this identifier to cite or link to this item:
https://nslhd.intersearch.com.au/nslhdjspui/handle/1/33704
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Parikh, Sumit | en |
dc.contributor.author | Karaa, Amel | en |
dc.contributor.author | Goldstein, Amy | en |
dc.contributor.author | Bertini, Enrico Silvio | en |
dc.contributor.author | Chinnery, Patrick F | en |
dc.contributor.author | Christodoulou, John | en |
dc.contributor.author | Cohen, Bruce H | en |
dc.contributor.author | Davis, Ryan L | en |
dc.contributor.author | Falk, Marni J | en |
dc.contributor.author | Fratter, Carl | en |
dc.contributor.author | Horvath, Rita | en |
dc.contributor.author | Koenig, Mary Kay | en |
dc.contributor.author | Mancuso, Michaelangelo | en |
dc.contributor.author | McCormack, Shana | en |
dc.contributor.author | McCormick, Elizabeth M | en |
dc.contributor.author | McFarland, Robert | en |
dc.contributor.author | Nesbitt, Victoria | en |
dc.contributor.author | Schiff, Manuel | en |
dc.contributor.author | Steele, Hannah | en |
dc.contributor.author | Stockler, Silvia | en |
dc.contributor.author | Sue, Carolyn | en |
dc.contributor.author | Tarnopolsky, Mark | en |
dc.contributor.author | Thorburn, David R | en |
dc.contributor.author | Vockley, Jerry | en |
dc.contributor.author | Rahman, Shamima | en |
dc.date.accessioned | 2021-06-17T08:18:43Z | - |
dc.date.available | 2021-06-17T08:18:43Z | - |
dc.date.issued | 2019-03 | - |
dc.identifier.citation | 56(3):123-130 | en |
dc.identifier.uri | https://nslhd.intersearch.com.au/nslhdjspui/handle/1/33704 | - |
dc.description.abstract | Primary 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.language | en | en |
dc.language.iso | en | en |
dc.relation.ispartof | Journal of Medical Genetics | en |
dc.title | Diagnosis of 'possible' mitochondrial disease: an existential crisis | en |
dc.type | Article | en |
dc.identifier.affiliation | Royal North Shore Hospital | en |
dc.identifier.doi | 10.1136/jmedgenet-2018-105800 | - |
dc.description.pages | 123-130 | en |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/30683676 | en |
dc.relation.url | https://jmg.bmj.com/content/56/3/123 | en |
dc.subject.keywords | metabolic disorders | en |
dc.subject.keywords | evidence based practice | en |
dc.subject.keywords | clinical geneticsdiagnosis | en |
dc.subject.aht | Metabolic disorders | en |
dc.subject.aht | Clinical genetics | en |
dc.subject.aht | Evidence-based practice | en |
local.editedby.name | HN 300822 | en |
dc.relation.department | Neurology | en |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
item.languageiso639-1 | en | - |
item.openairetype | Article | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
crisitem.author.dept | Northern Sydney Local Health District | - |
crisitem.author.dept | Royal North Shore Hospital | - |
crisitem.author.dept | Neurology | - |
Appears in Collections: | Research Publications |
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