Evidence map›Paper›PMID 30627136›Full record

ReviewFrontiers in genetics2018

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Dario Pacitti, Michelle Levene, Caterina Garone, Niranjanan Nirmalananthan, Bridget E Bax

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03866954 (The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase), which is not on this map. Cited by 44 papers.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed
2.4field-weighted citation impact, top 10% 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.

NCT03866954 phase2withdrawnnot on this mapstarted 2024, after this paper: background citation

The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE

TypeinterventionalSponsorSt George's, University of LondonRan2024 to 2027Enrolled0ConditionsMitochondrial Diseases, Metabolic Disease, Inborn Errors of MetabolismArmsEE-TP
3 · Its place in the literature

Who cites it

44 citing papers in PubMed, 67 citations in OpenAlex.

  1. Review
  2. Article
  3. Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025
    Review
  4. Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Review
  13. COQ7 defect causes prenatal onset of mitochondrial CoQEuropean journal of human genetics : EJHG · 2024
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Mitochondrial Epilepsy, a Challenge for Neurologists.International journal of molecular sciences · 2022
    Review
  20. 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

5 authors at 3 institutions in 1 country.

Dario PacittiMolecular and Clinical Sciences Research Institute, St George's, University of London, London, United Kingdom.
Michelle LeveneMolecular and Clinical Sciences Research Institute, St George's, University of London, London, United Kingdom.
Caterina GaroneMRC Mitochondrial Biology Unit, Cambridge Biomedical, Cambridge, United Kingdom.
Niranjanan NirmalananthanSt George's University Hospitals NHS Foundation Trust, London, United Kingdom.
Bridget E BaxMolecular and Clinical Sciences Research Institute, St George's, University of London, London, United Kingdom.
St George's, University of London · GBMRC Mitochondrial Biology Unit · GBSt George’s University Hospitals NHS Foundation Trust · GB

Funding

Medical Research Council G0902179Medical Research Council MR/K025406/1
6 · The paper itself

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic autosomal recessive disease, caused by mutations in the nuclear gene

Indexed as

deoxyribonucleosidemitochondrial diseasemitochondrial DNAmitochondrial neurogastrointestinal encephalomyopathyMNGIErare diseasethymidine phosphorylaseTYMP

Identifiers

PMID30627136
PMCPMC6309918
OpenAlexW2906421409

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.