Evidence map›Paper›PMID 34505344›Full record

ArticleInternal medicine journal2022

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, Catherine Bonifant, John Christodoulou, David Coman, Karen Crawley, Fabienne Edema-Hildebrand, Carolyn Ellaway, Roula Ghaoui and 12 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Internal medicine journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06504433 (The Natural History of Mitochondrial Diseases), which is not on this map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
1.1field-weighted citation impact, top 22% of its field
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.

NCT06504433 recruitingnot on this mapstarted 2024, after this paper: background citation

The Natural History of Mitochondrial Diseases

Typeobservational_patient_registrySponsorNeuroscience Research AustraliaRan2024 to 2034Enrolled500ConditionsMitochondrial Diseases, Neurological Diseases or Conditions, Genetic DiseaseArmsConfirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Acute profound lactic alkalosis associated withMolecular genetics and metabolism reports · 2025
    Article
  5. Review
  6. Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center ExperienceJournal of clinical research in pediatric endocrinology · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 15 institutions in 1 country.

Carolyn M SueDepartment of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0003-1255-3617
Shanti BalasubramaniamGenetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-3087-1654
Drago BratkovicMetabolic Clinic, Women's and Children's Hospital, Adelaide, South Australia, Australia.
Catherine BonifantDepartment of Dietetics and Food Services, Queensland Children's Hospital, Brisbane, Queensland, Australia.
John ChristodoulouWestern Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-8431-0641
David ComanDepartment of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.ORCID https://orcid.org/0000-0001-6303-6471
Karen CrawleyDepartment of Neurogenetics, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia.
Fabienne Edema-HildebrandDepartment of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.
Carolyn EllawayDiscipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-5752-5698
Roula GhaouiDepartment of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.ORCID https://orcid.org/0000-0003-2309-2086
Maina KavaDepartment of Neurology, Perth Children's Hospital, Perth, Western Australia, Australia.ORCID https://orcid.org/0000-0002-0212-8468
Lisa S KearnsCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Joy LeeDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Christina LiangDepartment of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.
David A MackeyCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia, Australia.ORCID https://orcid.org/0000-0001-7914-4709
Sean MurrayMito Foundation, Sydney, New South Wales, Australia.
Merrilee NeedhamFaculty of Medicine, Notre Dame University, Fremantle, Western Australia, Australia.ORCID https://orcid.org/0000-0001-6591-1444
Rocio RiusBrain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0002-9871-3126
Jacqui RussellGenetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
Nicholas J C SmithDiscipline of Paediatrics, The University of Adelaide, South Australia, Australia.ORCID https://orcid.org/0000-0003-2409-9239
Dominic ThyagarajanDepartment of Neuroscience, Alfred Centre, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0002-7766-4003
Christine WoolsDepartment of Neurology, Calvary Health Care Bethlehem, Melbourne, Victoria, Australia.
The University of Sydney · AURoyal Children's Hospital · AUCalvary Health Care Bethlehem · AUCentre for Eye Research Australia · AUChildren's Health Queensland Hospital and Health Service · AUChildren's Hospital at Westmead · AUGriffith University · AULions Eye Institute · AUMurdoch University · AURoyal Adelaide Hospital · AURoyal North Shore Hospital · AUThe Alfred Hospital · AUThe University of Western Australia · AUWomen's and Children's Health Network · AUWomen's and Children's Hospital · AU

Funding

Mito Foundation
6 · The paper itself

Abstract

This document provides consensus-based recommendations for general physicians and primary care physicians who diagnose and manage patients with mitochondrial diseases (MD). It builds on previous international guidelines, with particular emphasis on clinical management in the Australian setting. This statement was prepared by a working group of medical practitioners, nurses and allied health professionals with clinical expertise and experience in managing Australian patients with MD. As new treatments and management plans emerge, these consensus-based recommendations will continue to evolve, but current standards of care are summarised in this document.

Indexed as

Mitochondrial DiseasesStandard of CareAustraliaConsensusGuidelines as TopicHumansSocieties, Medicalclinical guidelinemitochondrial diseasetreatment

Identifiers

PMID34505344
PMCPMC9299181
OpenAlexW3196512871

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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.