Evidence map›Paper›PMID 37789894›Full record

ArticleFrontiers in neurology2023

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.

Montaha Almudhry, Asuri N Prasad, C Anthony Rupar, Keng Yeow Tay, Suzanne Ratko, Mary E Jenkins, Chitra Prasad

Open access · goldAbstract readCase Reports
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 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 56% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. 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

7 authors at 3 institutions in 2 countries.

Montaha AlmudhryLondon Health Sciences Centre, London, ON, Canada.
Asuri N PrasadLondon Health Sciences Centre, London, ON, Canada.
C Anthony RuparLondon Health Sciences Centre, London, ON, Canada.
Keng Yeow TayLondon Health Sciences Centre, London, ON, Canada.
Suzanne RatkoLondon Health Sciences Centre, London, ON, Canada.
Mary E JenkinsLondon Health Sciences Centre, London, ON, Canada.
Chitra PrasadLondon Health Sciences Centre, London, ON, Canada.
London Health Sciences Centre · CAWestern University · CAKing Fahad Specialist Hospital · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Molybdenum cofactor deficiency (MoCD) (OMIM Objectives: We report a milder phenotype in a patient with Case report: We present the case of a 10-year-old boy who was symptomatic at the age of 5 months with sudden onset of dyskinesia, nystagmus, and extrapyramidal signs following a febrile illness. Initial biochemical, radiological, and histopathological findings a Leigh syndrome-like phenotype; however, whole-exome sequencing detected compound heterozygous mutations in Conclusion: This presentation expands the phenotypic variability of late-onset MoCD A and highlights the role of secondary mitochondrial dysfunction in its pathogenesis.

Indexed as

dystoniaLeigh-like phenotypeMOCS1molybdenum cofactor deficiencystroke

Identifiers

PMID37789894
PMCPMC10542394
OpenAlexW4386836368

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.