Evidence map›Paper›PMID 40868553›Full record

ArticleChildren (Basel, Switzerland)2025

Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.

Mohammed Almuqbil, Najla Binsabbar, Shahad Alsaif, Sulaiman Almasoud, Talah Albasry, Duaa Baarmah, Waleed Altwaijri, Ahmed Alrumayyan

Abstract read
In one paragraph

Article in Children (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Mohammed AlmuqbilCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 11481, Saudi Arabia.
Najla BinsabbarDivision of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh 14611, Saudi Arabia.ORCID 0000-0001-9060-7268
Shahad AlsaifDivision of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh 14611, Saudi Arabia.
Sulaiman AlmasoudDivision of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh 14611, Saudi Arabia.ORCID 0000-0003-4776-2187
Talah AlbasryDivision of Pediatric Neurology, Department of Pediatrics, King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA), Riyadh 14611, Saudi Arabia.
Duaa BaarmahDivision of Pediatric Neurology, Department of Pediatrics, King Abdullah bin Abdulaziz Hospital (KAAUH), Princess Nourah bint Abdulrahman University (PNU), Riyadh 13412, Saudi Arabia.
Waleed AltwaijriCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 11481, Saudi Arabia.
Ahmed AlrumayyanCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 11481, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGiven the limited research on mitochondrial diseases in our area, specifically regarding their genetic variability and diverse clinical manifestations, and considering the significant number of consanguineous marriages in our region, we aimed to investigate the clinical and molecular characteristics of patients with mitochondrial disorders in Saudi Arabia.

methodsThis retrospective cross-sectional cohort study involved a chart review of patients diagnosed with mitochondrial disorders at the Ministry of National Guard Health Affairs tertiary health care centers in Saudi Arabia between 2013 and 2022.

resultsThe study population comprised 116 patients with a mean age of 10 years (±7 SD). Among the study cohort, 34.5% (

conclusionsThis study shows that gene type affects clinical characteristics, highlighting the importance of genetic studies in disease manifestation.

Indexed as

disordersgenetic disordersmitochondriamitochondrial diseasesmitochondrial dysfunctionSaudi Arabia

Identifiers

PMID40868553
PMCPMC12384868

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.