Evidence map›Paper›PMID 34884438›Full record

ArticleInternational journal of molecular sciences2021

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, Lenaig Abily-Donval, Alice Goldenberg, Gajja S Salomons, Stéphane Marret, Soumeya Bekri, Abdellah Tebani

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

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
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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

9 authors at 2 institutions in 2 countries.

Sarah SnanoudjDepartment of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.ORCID 0000-0002-8382-056X
Stéphanie TorreDepartment of Neonatal Pediatrics, Intensive Care and Neuropediatrics, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.
Bénédicte Sudrié-ArnaudDepartment of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.
Lenaig Abily-DonvalDepartment of Neonatal Pediatrics, Intensive Care and Neuropediatrics, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.
Alice GoldenbergDepartment of Genetics and Reference Center for Developmental Disorders, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.
Gajja S SalomonsMetabolic Unit, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Paediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.
Stéphane MarretDepartment of Neonatal Pediatrics, Intensive Care and Neuropediatrics, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.ORCID 0000-0002-2858-148X
Soumeya BekriDepartment of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.ORCID 0000-0001-6184-7270
Abdellah TebaniDepartment of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, 76000 Rouen, France.ORCID 0000-0002-8901-2678
Inserm · FREmma Kinderziekenhuis · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. This enzyme is encoded by the

Indexed as

Point MutationCarboxy-LyasesCarnitineChild, PreschoolConsanguinityHomozygoteHumansMaleMalonatesMalonyl Coenzyme AMetabolism, Inborn ErrorsMethylmalonic AcidPedigreeacylcarnitineCarboxy-LyasesCarnitineMalonatesmalonic acidmalonyl-CoA decarboxylaseMalonyl Coenzyme AMethylmalonic Acidbeta-oxidationcardiomyopathyinborn errors of metabolismmalonic aciduriaMLYCD

Identifiers

PMID34884438
PMCPMC8658006
OpenAlexW3215774620

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.