Evidence map›Paper›PMID 38069070›Full record

ReviewInternational journal of molecular sciences2023

Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?

Federica Conti, Serena Di Martino, Filippo Drago, Claudio Bucolo, Vincenzo Micale, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso, Piervito Lopriore

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–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

7 citing papers in PubMed.

  1. The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  2. Review
  3. Review
  4. Review
  5. Article
  6. The Role of Uridine in Health and Disease.Journal of inflammation research · 2025
    Review
  7. Review
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

9 authors.

Federica ContiDepartment of Biomedical and Biotechnological Science, School of Medicine, University of Catania, 95123 Catania, Italy.
Serena Di MartinoDepartment of Biomedical and Biotechnological Science, School of Medicine, University of Catania, 95123 Catania, Italy.
Filippo DragoDepartment of Biomedical and Biotechnological Science, School of Medicine, University of Catania, 95123 Catania, Italy.
Claudio BucoloDepartment of Biomedical and Biotechnological Science, School of Medicine, University of Catania, 95123 Catania, Italy.ORCID 0000-0002-4879-4140
Vincenzo MicaleDepartment of Biomedical and Biotechnological Science, School of Medicine, University of Catania, 95123 Catania, Italy.ORCID 0000-0002-6232-8859
Vincenzo MontanoNeurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Gabriele SicilianoNeurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.ORCID 0000-0002-6142-2384
Michelangelo MancusoNeurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.ORCID 0000-0003-2738-8562
Piervito LoprioreNeurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.ORCID 0000-0002-9789-3129

Funding

Telethon GUP09004
6 · The paper itself

Abstract

Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial diseases and the resulting diagnostic challenges that follow. Some peculiar features ("red flags") may indicate a primary mitochondrial disease, helping the physician to orient in this diagnostic maze. In this narrative review, we aimed to outline the features of the most common mitochondrial red flags offering a general overview on the topic that could help physicians to untangle mitochondrial medicine complexity.

Indexed as

MedicineMitochondrial DiseasesHumansMitochondriaOxidative Phosphorylationmitochondriaprimary mitochondrial diseasesrare diseasesred flags

Identifiers

PMID38069070
PMCPMC10706469

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.