Evidence map›Paper›PMID 38073635›Full record

ArticleFrontiers in neurology2023

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.

Montaha Almudhry, Arushi Gahlot Saini, Mohammed A Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C Anthony Rupar, Chitra Prasad, Andrea C Yu, Savita Verma Attri, Asuri Narayan Prasad

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 44% 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.

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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

10 authors at 5 institutions in 3 countries.

Montaha Almudhry *London Health Sciences Centre, London, ON, Canada.
Arushi Gahlot Saini *Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Mohammed A Al-OmariDepartment of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Yashu SharmaDepartment of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Maryam Nabavi NouriLondon Health Sciences Centre, London, ON, Canada.
C Anthony RuparLondon Health Sciences Centre, London, ON, Canada.
Chitra PrasadLondon Health Sciences Centre, London, ON, Canada.
Andrea C YuDepartment of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Savita Verma AttriDepartment of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Asuri Narayan PrasadLondon Health Sciences Centre, London, ON, Canada.
Western University · CAPost Graduate Institute of Medical Education and Research · INChildren's Hospital of Eastern Ontario · CAImam Abdulrahman Bin Faisal University · SALondon Health Sciences Centre · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Deficiency of the mitochondrial succinyl-CoA ligase/synthetase enzyme secondary to pathogenic variations in the Methods: This cross-sectional series describes five patients with MDDS secondary to pathogenic variations in the Results: All subjects presented in early infancy with neurological manifestations, including movement disorder, psychomotor regression, developmental delay, hearing loss, behavioral issues, or a combination thereof. Elevated methylmalonic acid metabolites, an abnormal acylcarnitine profile, and lactic acidemia were noted in the biochemical profile of each patient ( Conclusion: MDDS associated with

Indexed as

dystoniamethylmalonic acidmitochondrial disordermitochondrial DNA depletion syndromemovement disorderSUCLA2SUCLG1

Identifiers

PMID38073635
PMCPMC10704898
OpenAlexW4388970972

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.