Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.

Sarah Crawford, Elizabeth Sablon, Nadia Ali, Ami R Rosen, Patricia L Hall, Juanita Neira Fresneda

Open access · goldAbstract read

In one paragraph

Article in International journal of neonatal screening, 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

–field-weighted citation impact, top 77% 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, 0 citations in OpenAlex.

Early identification of LPIN1 variant in a child with severe myoglobinuria and a history of sibling deaths.CEN case reports · 2026
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.

Sarah CrawfordCincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Elizabeth SablonDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Nadia AliDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Ami R RosenDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.ORCID 0000-0001-5718-6756

Patricia L HallMayo Clinic, Rochester, MN 55905, USA.

Juanita Neira FresnedaDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Emory University · USCincinnati Children's Hospital Medical Center · USMayo Clinic in Arizona · US

Funding

Georgia Association of Genetic Counselors 10

6 · The paper itself

Abstract

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long carbon chains. The resulting clinical manifestations are variable in severity and include hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. Treatment can consist of limiting the dietary intake of long-chain fatty acids, the prevention of fasting, and the supplementation of medium-chain fats. This study, conducted in the context of a 5-year long-term follow-up on VLCADD, evaluates how the diagnosis of this fatty acid disorder impacts the family, specifically as it relates to the medical diet and barriers to care. Caregivers (

Indexed as

barrierscardiomyopathycaregivermedical dietmetabolismrhabdomyolysisVLCADD

Identifiers

PMID37873844

DOI10.3390/ijns9040053

PMCPMC10594473

OpenAlexW4387408738

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.