Evidence map›Paper›PMID 37822418›Full record

ArticleGlobal medical genetics2023

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.

Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Global medical genetics, 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
0.4field-weighted citation impact, top 38% 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, 2 citations in OpenAlex.

  1. 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

6 authors at 3 institutions in 1 country.

Maha AlotaibiDepartment of Genetic, Children Hospital, King Saud Medical City, Riyadh, Saudi Arabia.
Amal AlqasmiDepartment of Pediatric Neurology and Epilepsy, King Saud Medical City, Riyadh, Saudi Arabia.
Faisal AlbassamCollage of Medicine, AlMaarefa University, Riyadh, Saudi Arabia.
Turki AlkahtaniCollage of Medicine, AlMaarefa University, Riyadh, Saudi Arabia.
Muath AlqahtanyCollage of Medicine, AlMaarefa University, Riyadh, Saudi Arabia.
Mohammed AlkhaldiCollage of Medicine, AlMaarefa University, Riyadh, Saudi Arabia.
Alfaisal University · SAAlmaarefa UniversityKing Saud Medical City · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is responsible for β oxidation spiral pathway's initial step, the dehydrogenation process of long-chain fatty acyl-CoA. The phenotypes include hypoglycemia, hepatomegaly, cardiomyopathy, and occasionally abrupt mortality. Most VLCAD deficiencies in newborns are now detected during the neonatal period due to the development of newborn screening programs. Mitochondrial DNA depletion syndromes (MTDPS) are one of the rarest metabolic disorders. It is an autosomal recessive disease caused by defects in genes necessary for the maintenance of mitochondrial DNA (mtDNA). One of these

Indexed as

FBXL4hypoglycemiamitochondrial diseasesmitochondrial DNApediatric geneticsvery long-chain acyl-CoA dehydrogenase deficiency

Identifiers

PMID37822418
PMCPMC10564565
OpenAlexW4387515276

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.