Evidence map›Paper›PMID 35782614›Full record

ArticleMolecular genetics and metabolism reports2022

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Annemarijne R J Veenvliet, Mark R Garrelfs, Floris E A Udink Ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M J van Wegberg, Marleen C D G Huigen and 7 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2022. 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
0.7field-weighted citation impact, top 33% 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

0 citing papers in PubMed, 5 citations in OpenAlex.

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

17 authors at 7 institutions in 1 country.

Annemarijne R J VeenvlietRadboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
Mark R GarrelfsRadboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
Floris E A Udink Ten CateAcademic Center for Congenital Heart Disease (ACAHA), Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
Sacha FerdinandusseLaboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Simone DenisLaboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Sabine A FuchsDepartment of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
Marit SchwantjeLaboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Rosa GeurtzenAmalia Childrens Hospital, department of neonatology, Radboud University Medical Center, Nijmegen, the Netherlands.
Annemiek M J van WegbergDepartment of Gastroenterology and Hepatology, Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, the Netherlands.
Marleen C D G HuigenTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Leo A J KluijtmansTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Ronald J A WandersUnited for Metabolic Diseases, the Netherlands.
Terry G J DerksUnited for Metabolic Diseases, the Netherlands.
Lonneke de BoerRadboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
Riekelt H HoutkooperUnited for Metabolic Diseases, the Netherlands.
Maaike C de VriesRadboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
Clara D M van KarnebeekRadboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
Radboud University Nijmegen · NLAmalia Kinderziekenhuis · NLAmsterdam Neuroscience · NLRadboud University Medical Center · NLEmma Kinderziekenhuis · NLUniversity of Amsterdam · NLWilhelmina Children's Hospital · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in

Indexed as

CardiomyopathyFatty acid oxidation disorderHADHBKetonesLong-chain 3-keto-acyl CoA thiolase (LCKAT)MTPResveratrolSpeckle-echocardiography

Identifiers

PMID35782614
PMCPMC9248206
OpenAlexW4229039550

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.