1
40
2
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/jmedgenet-2018-105800</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
123-130
Issue
3
Volume
56
NEOMED College
NEOMED College of Medicine
NEOMED Department
Department of Pediatrics; Department of Integrative Medical Sciences
Affiliated Hospital
Akron Children's Hospital
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Publisher
An entity responsible for making the resource available
Journal of medical genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2019
2019-03
Subject
The topic of the resource
clinical genetics; diagnosis; evidence based practice; metabolic disorders
Creator
An entity primarily responsible for making the resource
Parikh Sumit; Karaa Amel; Goldstein Amy; Bertini Enrico Silvio; Chinnery Patrick F; Christodoulou John; Cohen Bruce H; Davis Ryan L; Falk Marni J; Fratter Carl; Horvath Rita; Koenig Mary Kay; Mancuso Michaelangelo; McCormack Shana; McCormick Elizabeth M; McFarland Robert; Nesbitt Victoria; Schiff Manuel; Steele Hannah; Stockler Silvia; Sue Carolyn; Tarnopolsky Mark; Thorburn David R; Vockley Jerry; Rahman Shamima
Description
An account of the resource
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.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">10.1136/jmedgenet-2018-105800</a>
2019
Akron Children's Hospital
Bertini Enrico Silvio
Chinnery Patrick F
Christodoulou John
clinical genetics
Cohen Bruce H
Davis Ryan L
Department of Integrative Medical Sciences
Department of Pediatrics
Diagnosis
evidence based practice
Falk Marni J
Fratter Carl
Goldstein Amy
Horvath Rita
Journal of medical genetics
Karaa Amel
Koenig Mary Kay
Mancuso Michaelangelo
McCormack Shana
McCormick Elizabeth M
McFarland Robert
metabolic disorders
NEOMED College of Medicine
Nesbitt Victoria
Parikh Sumit
Rahman Shamima
Schiff Manuel
Steele Hannah
Stockler Silvia
Sue Carolyn
Tarnopolsky Mark
Thorburn David R
Vockley Jerry
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/jmedgenet-2018-105800</a>
Pages
123–130
Issue
3
Volume
56
NEOMED College
NEOMED College of Medicine
NEOMED Department
Department of Pediatrics; Department of Integrative Medical Sciences
Affiliated Hospital
Akron Children's Hospital
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Publisher
An entity responsible for making the resource available
Journal of medical genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2019
2019-03
Subject
The topic of the resource
clinical genetics; diagnosis; evidence based practice; metabolic disorders
Creator
An entity primarily responsible for making the resource
Parikh Sumit; Karaa Amel; Goldstein Amy; Bertini Enrico Silvio; Chinnery Patrick F; Christodoulou John; Cohen Bruce H; Davis Ryan L; Falk Marni J; Fratter Carl; Horvath Rita; Koenig Mary Kay; Mancuso Michaelangelo; McCormack Shana; McCormick Elizabeth M; McFarland Robert; Nesbitt Victoria; Schiff Manuel; Steele Hannah; Stockler Silvia; Sue Carolyn; Tarnopolsky Mark; Thorburn David R; Vockley Jerry; Rahman Shamima
Description
An account of the resource
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.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">10.1136/jmedgenet-2018-105800</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
2019
Akron Children's Hospital
Bertini Enrico Silvio
Chinnery Patrick F
Christodoulou John
clinical genetics
Cohen Bruce H
Davis Ryan L
Department of Integrative Medical Sciences
Department of Pediatrics
Diagnosis
evidence based practice
Falk Marni J
Fratter Carl
Goldstein Amy
Horvath Rita
Journal of medical genetics
Karaa Amel
Koenig Mary Kay
Mancuso Michaelangelo
McCormack Shana
McCormick Elizabeth M
McFarland Robert
metabolic disorders
NEOMED College of Medicine
Nesbitt Victoria
Parikh Sumit
Rahman Shamima
Schiff Manuel
Steele Hannah
Stockler Silvia
Sue Carolyn
Tarnopolsky Mark
Thorburn David R
Vockley Jerry