Evidence map›Paper›PMID 28749475›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2017

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns and 25 more

Abstract readConsensus StatementReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 159 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
159citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

159 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Guideline
  4. Review
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  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Cholesterol in Mitochondrial Diseases-Friend or Foe?International journal of molecular sciences · 2026
    Review
  12. Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026
    Review
  13. Review
  14. Hyperlactatemia following pesticide exposure.World journal of emergency medicine · 2026
    Article
  15. Review
  16. Observational
  17. Article
  18. Review
  19. Article
  20. Review

99 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

35 authors.

Sumit ParikhCenter for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
Amy GoldsteinDivision of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Amel KaraaDivision of Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Mary Kay KoenigDivision of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
Irina AnselmDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Catherine Brunel-GuittonDepartment of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
John ChristodoulouNeurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia.
Bruce H CohenNeurodevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
David DimmockRady Children's Institute for Genomic Medicine, San Diego, California, USA.
Gregory M EnnsDivision of Medical Genetics, Department of Pediatrics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
Marni J FalkDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Annette FeigenbaumDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Richard E FryeDepartment of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
Jaya GaneshDivision of Genetics, Department of Pediatrics, Cooper Medical School at Rowan University, Camden, New Jersey, USA.
David GriesemerDivision of Neurology, Levine Children's Hospital, Charlotte, North Carolina, USA.
Richard HaasDepartments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
Rita HorvathInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Mark KorsonGenetic Metabolic Center for Education, Salem, Massachusetts, USA.
Michael C KruerDepartment of Pediatric Neurology, University of Arizona College of Medicine, Phoenix, Arizona, USA.
Michelangelo MancusoDepartment of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Shana McCormackDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Marie Josee RaboissonDepartment of Cardiology, CHU Sainte-Justine, Montreal, Quebec, Canada.
Tyler ReimschiselDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Ramona SalvarinovaDivision of Biochemical Diseases, BC Children's Hospital, British Columbia, Canada.
Russell P SanetoDepartment of Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
John ShoffnerNeurology, Biochemical & Molecular Genetics, Atlanta, Georgia, USA.
Peter W StacpooleDepartment of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
Carolyn M SueDepartment of Neurology and Kolling Institute, Royal North Shore Hospital, St Leonards, Australia.
Mark TarnopolskyDivision of Neurology, McMaster University, Hamilton, Ontario, Canada.
Clara Van KarnebeekDepartment of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Lynne A WolfeUndiagnosed Diseases Network, National Institutes of Health, Bethesda, Maryland, USA.
Zarazuela Zolkipli CunninghamDivision of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Shamima RahmanMitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
Patrick F ChinneryDepartment of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

Funding

Career Development Program in Pediatric Diabetes Research (K12) at CHOPK12DK094723 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI WILLI, STEVEN M · 2011 to 2020
$3.6M
Medical Research Council MC_UP_1501/2Medical Research Council MR/N025431/1NIDDK NIH HHS K12 DK094723Wellcome Trust
6 · The paper itself

Abstract

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease.

Indexed as

Standard of CareDisease ManagementHumansMitochondrial Diseases

Identifiers

PMID28749475
PMCPMC7804217

What OpenQuestion holds

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Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.