Evidence map›Paper›PMID 33294374›Full record

ArticleMolecular genetics and metabolism reports2020

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.

Lara M Marten, Florian Brinkert, Desirée E C Smith, Holger Prokisch, Maja Hempel, René Santer

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

Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. The Primary Microglial Leukodystrophies: A Review.International journal of molecular sciences · 2022
    Review
  7. Expanded phenotype of AARS1-related white matter disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    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 4 institutions in 2 countries.

Lara M MartenDepartment of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Florian BrinkertDepartment of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Desirée E C SmithDepartment of Clinical Chemistry, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Holger ProkischInstitute of Human Genetics, Technical University Munich, Munich, Germany.
Maja HempelInstitute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany.
René SanterDepartment of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Universität Hamburg · DEAmsterdam University Medical Centers · NLTechnical University of Munich · DEUniversity Medical Center Hamburg-Eppendorf · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the

Indexed as

AARS1AARS1, alanyl-(aminoacyl)-tRNA synthetase-1aaRS, aminoacyl-tRNA synthetaseAminoacylationMetabolic diseasemtDNA, mitochondrial DNAnDNA, nuclear DNAPICU, pediatric intensive care unitProtein biosynthesisRecurrent acute liver failure

Identifiers

PMID33294374
PMCPMC7691605
OpenAlexW3108966416

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.