Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Identifieur interne : 000756 ( PubMed/Checkpoint ); précédent : 000755; suivant : 000757Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Auteurs : Sumit Parikh [États-Unis] ; Amy Goldstein [États-Unis] ; Mary Kay Koenig [États-Unis] ; Fernando Scaglia [États-Unis] ; Gregory M. Enns [États-Unis] ; Russell Saneto [États-Unis] ; Irina Anselm [États-Unis] ; Bruce H. Cohen [États-Unis] ; Marni J. Falk [États-Unis] ; Carol Greene [États-Unis] ; Andrea L. Gropman [États-Unis] ; Richard Haas [États-Unis] ; Michio Hirano [États-Unis] ; Phil Morgan [États-Unis] ; Katherine Sims [États-Unis] ; Mark Tarnopolsky [Canada] ; Johan L K. Van Hove [États-Unis] ; Lynne Wolfe [États-Unis] ; Salvatore Dimauro [États-Unis]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1530-0366 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- diagnosis : Mitochondrial Diseases.
- therapy : Mitochondrial Diseases.
- Consensus, Delphi Technique, Evidence-Based Medicine, Humans, Treatment Outcome.
Abstract
The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients.
DOI: 10.1038/gim.2014.177
PubMed: 25503498
Affiliations:
- Canada, États-Unis
- Californie, Colorado, District de Columbia, Maryland, Massachusetts, Ohio, Ontario, Pennsylvanie, Texas, Washington (État), État de New York
- Hamilton (Ontario), Seattle
- Université McMaster, Université de Washington
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pubmed:25503498Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.</title><author><name sortKey="Parikh, Sumit" sort="Parikh, Sumit" uniqKey="Parikh S" first="Sumit" last="Parikh">Sumit Parikh</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Koenig, Mary Kay" sort="Koenig, Mary Kay" uniqKey="Koenig M" first="Mary Kay" last="Koenig">Mary Kay Koenig</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M" last="Enns">Gregory M. Enns</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Saneto, Russell" sort="Saneto, Russell" uniqKey="Saneto R" first="Russell" last="Saneto">Russell Saneto</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region><settlement type="city">Seattle</settlement></placeName><orgName type="university">Université de Washington</orgName></affiliation></author><author><name sortKey="Anselm, Irina" sort="Anselm, Irina" uniqKey="Anselm I" first="Irina" last="Anselm">Irina Anselm</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Cohen, Bruce H" sort="Cohen, Bruce H" uniqKey="Cohen B" first="Bruce H" last="Cohen">Bruce H. Cohen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, NeuroDevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, NeuroDevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Falk, Marni J" sort="Falk, Marni J" uniqKey="Falk M" first="Marni J" last="Falk">Marni J. Falk</name><affiliation wicri:level="2"><nlm:affiliation>Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Greene, Carol" sort="Greene, Carol" uniqKey="Greene C" first="Carol" last="Greene">Carol Greene</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Gropman, Andrea L" sort="Gropman, Andrea L" uniqKey="Gropman A" first="Andrea L" last="Gropman">Andrea L. Gropman</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Haas, Richard" sort="Haas, Richard" uniqKey="Haas R" first="Richard" last="Haas">Richard Haas</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Columbia University Medical Center, New York, New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Morgan, Phil" sort="Morgan, Phil" uniqKey="Morgan P" first="Phil" last="Morgan">Phil Morgan</name><affiliation wicri:level="2"><nlm:affiliation>Department of Anesthesiology, Seattle Children's Hospital, Seattle, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Anesthesiology, Seattle Children's Hospital, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Van Hove, Johan L K" sort="Van Hove, Johan L K" uniqKey="Van Hove J" first="Johan L K" last="Van Hove">Johan L K. Van Hove</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Clinical Genetics and Metabolism, Children's Hospital Colorado, Denver, Colorado, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Clinical Genetics and Metabolism, Children's Hospital Colorado, Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Wolfe, Lynne" sort="Wolfe, Lynne" uniqKey="Wolfe L" first="Lynne" last="Wolfe">Lynne Wolfe</name><affiliation wicri:level="2"><nlm:affiliation>National Institutes of Health, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Dimauro, Salvatore" sort="Dimauro, Salvatore" uniqKey="Dimauro S" first="Salvatore" last="Dimauro">Salvatore Dimauro</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Columbia University Medical Center, New York, New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25503498</idno><idno type="pmid">25503498</idno><idno type="doi">10.1038/gim.2014.177</idno><idno type="wicri:Area/PubMed/Corpus">000132</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000132</idno><idno type="wicri:Area/PubMed/Curation">000132</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000132</idno><idno type="wicri:Area/PubMed/Checkpoint">000132</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000132</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.</title><author><name sortKey="Parikh, Sumit" sort="Parikh, Sumit" uniqKey="Parikh S" first="Sumit" last="Parikh">Sumit Parikh</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Koenig, Mary Kay" sort="Koenig, Mary Kay" uniqKey="Koenig M" first="Mary Kay" last="Koenig">Mary Kay Koenig</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M" last="Enns">Gregory M. Enns</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Saneto, Russell" sort="Saneto, Russell" uniqKey="Saneto R" first="Russell" last="Saneto">Russell Saneto</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region><settlement type="city">Seattle</settlement></placeName><orgName type="university">Université de Washington</orgName></affiliation></author><author><name sortKey="Anselm, Irina" sort="Anselm, Irina" uniqKey="Anselm I" first="Irina" last="Anselm">Irina Anselm</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Cohen, Bruce H" sort="Cohen, Bruce H" uniqKey="Cohen B" first="Bruce H" last="Cohen">Bruce H. Cohen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, NeuroDevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, NeuroDevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Falk, Marni J" sort="Falk, Marni J" uniqKey="Falk M" first="Marni J" last="Falk">Marni J. Falk</name><affiliation wicri:level="2"><nlm:affiliation>Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Greene, Carol" sort="Greene, Carol" uniqKey="Greene C" first="Carol" last="Greene">Carol Greene</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Gropman, Andrea L" sort="Gropman, Andrea L" uniqKey="Gropman A" first="Andrea L" last="Gropman">Andrea L. Gropman</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC</wicri:regionArea><placeName><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Haas, Richard" sort="Haas, Richard" uniqKey="Haas R" first="Richard" last="Haas">Richard Haas</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Columbia University Medical Center, New York, New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Morgan, Phil" sort="Morgan, Phil" uniqKey="Morgan P" first="Phil" last="Morgan">Phil Morgan</name><affiliation wicri:level="2"><nlm:affiliation>Department of Anesthesiology, Seattle Children's Hospital, Seattle, Washington, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Anesthesiology, Seattle Children's Hospital, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Van Hove, Johan L K" sort="Van Hove, Johan L K" uniqKey="Van Hove J" first="Johan L K" last="Van Hove">Johan L K. Van Hove</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Clinical Genetics and Metabolism, Children's Hospital Colorado, Denver, Colorado, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Clinical Genetics and Metabolism, Children's Hospital Colorado, Denver, Colorado</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Wolfe, Lynne" sort="Wolfe, Lynne" uniqKey="Wolfe L" first="Lynne" last="Wolfe">Lynne Wolfe</name><affiliation wicri:level="2"><nlm:affiliation>National Institutes of Health, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Dimauro, Salvatore" sort="Dimauro, Salvatore" uniqKey="Dimauro S" first="Salvatore" last="Dimauro">Salvatore Dimauro</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Columbia University Medical Center, New York, New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></analytic><series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title><idno type="eISSN">1530-0366</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Consensus</term><term>Delphi Technique</term><term>Evidence-Based Medicine</term><term>Humans</term><term>Mitochondrial Diseases (diagnosis)</term><term>Mitochondrial Diseases (therapy)</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Consensus</term><term>Humains</term><term>Maladies mitochondriales ()</term><term>Maladies mitochondriales (diagnostic)</term><term>Médecine factuelle</term><term>Méthode Delphi</term><term>Résultat thérapeutique</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Maladies mitochondriales</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Mitochondrial Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consensus</term><term>Delphi Technique</term><term>Evidence-Based Medicine</term><term>Humans</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Consensus</term><term>Humains</term><term>Maladies mitochondriales</term><term>Médecine factuelle</term><term>Méthode Delphi</term><term>Résultat thérapeutique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25503498</PMID><DateCreated><Year>2015</Year><Month>09</Month><Day>03</Day></DateCreated><DateCompleted><Year>2016</Year><Month>06</Month><Day>14</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1530-0366</ISSN><JournalIssue CitedMedium="Internet"><Volume>17</Volume><Issue>9</Issue><PubDate><Year>2015</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Genetics in medicine : official journal of the American College of Medical Genetics</Title><ISOAbbreviation>Genet. Med.</ISOAbbreviation></Journal><ArticleTitle>Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.</ArticleTitle><Pagination><MedlinePgn>689-701</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/gim.2014.177</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The Writing Group members were appointed by the Mitochondrial Medicine Society. The panel included members with expertise in several different areas. The panel members utilized a comprehensive review of the literature, surveys, and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Consensus-based recommendations are provided for the diagnosis and treatment of mitochondrial disease.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">The Delphi process enabled the formation of consensus-based recommendations. We hope that these recommendations will help standardize the evaluation, diagnosis, and care of patients with suspected or demonstrated mitochondrial disease.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Parikh</LastName><ForeName>Sumit</ForeName><Initials>S</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-3712-8959</Identifier><AffiliationInfo><Affiliation>Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goldstein</LastName><ForeName>Amy</ForeName><Initials>A</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-7675-3063</Identifier><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Koenig</LastName><ForeName>Mary Kay</ForeName><Initials>MK</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-5126-8515</Identifier><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scaglia</LastName><ForeName>Fernando</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Enns</LastName><ForeName>Gregory M</ForeName><Initials>GM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saneto</LastName><ForeName>Russell</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Anselm</LastName><ForeName>Irina</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cohen</LastName><ForeName>Bruce H</ForeName><Initials>BH</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, NeuroDevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Falk</LastName><ForeName>Marni J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Greene</LastName><ForeName>Carol</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gropman</LastName><ForeName>Andrea L</ForeName><Initials>AL</Initials><AffiliationInfo><Affiliation>Department of Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haas</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hirano</LastName><ForeName>Michio</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology, Columbia University Medical Center, New York, New York, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morgan</LastName><ForeName>Phil</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Anesthesiology, Seattle Children's Hospital, Seattle, Washington, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sims</LastName><ForeName>Katherine</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tarnopolsky</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Van Hove</LastName><ForeName>Johan L K</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Clinical Genetics and Metabolism, Children's Hospital Colorado, Denver, Colorado, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wolfe</LastName><ForeName>Lynne</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>National Institutes of Health, Bethesda, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>DiMauro</LastName><ForeName>Salvatore</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, Columbia University Medical Center, New York, New York, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P01 HD080642</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U54 NS078059</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>12</Month><Day>11</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Genet 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Apr;10(2):251-61</RefSource><PMID Version="1">23269497</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D032921" MajorTopicYN="N">Consensus</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003697" MajorTopicYN="N">Delphi Technique</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019317" MajorTopicYN="N">Evidence-Based Medicine</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D028361" MajorTopicYN="N">Mitochondrial Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000628" MajorTopicYN="Y">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016896" MajorTopicYN="N">Treatment Outcome</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS802230</OtherID><OtherID Source="NLM">PMC5000852</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>07</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>11</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>12</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>6</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25503498</ArticleId><ArticleId IdType="pii">gim2014177</ArticleId><ArticleId IdType="doi">10.1038/gim.2014.177</ArticleId><ArticleId IdType="pmc">PMC5000852</ArticleId><ArticleId IdType="mid">NIHMS802230</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Californie</li><li>Colorado</li><li>District de Columbia</li><li>Maryland</li><li>Massachusetts</li><li>Ohio</li><li>Ontario</li><li>Pennsylvanie</li><li>Texas</li><li>Washington (État)</li><li>État de New York</li></region><settlement><li>Hamilton (Ontario)</li><li>Seattle</li></settlement><orgName><li>Université McMaster</li><li>Université de Washington</li></orgName></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Parikh, Sumit" sort="Parikh, Sumit" uniqKey="Parikh S" first="Sumit" last="Parikh">Sumit Parikh</name></region><name sortKey="Anselm, Irina" sort="Anselm, Irina" uniqKey="Anselm I" first="Irina" last="Anselm">Irina Anselm</name><name sortKey="Cohen, Bruce H" sort="Cohen, Bruce H" uniqKey="Cohen B" first="Bruce H" last="Cohen">Bruce H. Cohen</name><name sortKey="Dimauro, Salvatore" sort="Dimauro, Salvatore" uniqKey="Dimauro S" first="Salvatore" last="Dimauro">Salvatore Dimauro</name><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M" last="Enns">Gregory M. Enns</name><name sortKey="Falk, Marni J" sort="Falk, Marni J" uniqKey="Falk M" first="Marni J" last="Falk">Marni J. Falk</name><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name><name sortKey="Greene, Carol" sort="Greene, Carol" uniqKey="Greene C" first="Carol" last="Greene">Carol Greene</name><name sortKey="Gropman, Andrea L" sort="Gropman, Andrea L" uniqKey="Gropman A" first="Andrea L" last="Gropman">Andrea L. Gropman</name><name sortKey="Haas, Richard" sort="Haas, Richard" uniqKey="Haas R" first="Richard" last="Haas">Richard Haas</name><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name><name sortKey="Koenig, Mary Kay" sort="Koenig, Mary Kay" uniqKey="Koenig M" first="Mary Kay" last="Koenig">Mary Kay Koenig</name><name sortKey="Morgan, Phil" sort="Morgan, Phil" uniqKey="Morgan P" first="Phil" last="Morgan">Phil Morgan</name><name sortKey="Saneto, Russell" sort="Saneto, Russell" uniqKey="Saneto R" first="Russell" last="Saneto">Russell Saneto</name><name sortKey="Scaglia, Fernando" sort="Scaglia, Fernando" uniqKey="Scaglia F" first="Fernando" last="Scaglia">Fernando Scaglia</name><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><name sortKey="Van Hove, Johan L K" sort="Van Hove, Johan L K" uniqKey="Van Hove J" first="Johan L K" last="Van Hove">Johan L K. Van Hove</name><name sortKey="Wolfe, Lynne" sort="Wolfe, Lynne" uniqKey="Wolfe L" first="Lynne" last="Wolfe">Lynne Wolfe</name></country><country name="Canada"><region name="Ontario"><name sortKey="Tarnopolsky, Mark" sort="Tarnopolsky, Mark" uniqKey="Tarnopolsky M" first="Mark" last="Tarnopolsky">Mark Tarnopolsky</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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