Evidence map›Paper›PMID 38353291›Full record

ReviewJournal of pediatric endocrinology & metabolism : JPEM2024

Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.

Gülreyhan Sonuç Kartal, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu

Abstract readReviewCase Reports
PubMed Publisher
In one paragraph

Review in Journal of pediatric endocrinology & metabolism : JPEM, 2024. 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
–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

1 citing paper in PubMed.

  1. Journal of neuromuscular diseases · 2026
    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

4 authors.

Gülreyhan Sonuç KartalDepartment of Pediatrics, Ankara University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0009-0008-4904-6815
Merve Koç YekedüzDepartment of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0000-0003-0637-417X
Engin KöseDepartment of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0000-0001-7238-2894
Fatma Tuba EminoğluDepartment of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0000-0002-5880-1113

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesPrimary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the CASE PRESENTATION: A 3-month-and-22-day-old male was admitted to our outpatient clinic due to poor feeding and restlessness. He was born following an uneventful pregnancy to a nonconsanguineous marriage. A physical examination revealed hypotonia, a dolichocephaly, periorbital edema, and long eyelashes. Blood tests revealed metabolic acidosis and elevated serum lactate levels, while the genetic analysis revealed a variant previously reported as pathogenic, c.437T>G (p.Phe146Cys), in the

conclusionsPrimary Coenzyme Q10 Deficiency-7 should be considered in the differential diagnosis of infants presenting with neurological and dysmorphic manifestations.

Indexed as

AtaxiaCardiomyopathiesMitochondrial DiseasesMuscle WeaknessFemaleHumansInfantInfant, NewbornMaleMuscle HypotoniaPregnancySeizuresUbiquinoneUbiquinonecoenzyme Q4 deficiencymitochondrial disordersneonatal encephalomyopathy–cardiomyopathy–respiratory distress syndromePrimary Coenzyme Q10 Deficiency-7

Identifiers

PMID38353291

What Socratic holds

Textmetadata
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 Socratic graph.