Evidence map›Paper›PMID 35165146›Full record

ArticleCold Spring Harbor molecular case studies2022

Ethylmalonic encephalopathy masquerading as meningococcemia.

Ari Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan and 7 more

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

Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023
    Review
  3. 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

17 authors at 5 institutions in 1 country.

Ari HortonMonash Genetics, Monash Health, Melbourne, Victoria, Australia.ORCID 0000-0003-2043-4343
Kai Mun HongVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.
Dinusha PandithanDepartment of Metabolic Medicine, Royal Children's Hospital, Parkville Victoria 3052, Australia.
Meredith AllenDepartment of Paediatrics, Monash University Clayton, Victoria, Australia.
Caroline KillickDepartment of Paediatrics, Monash University Clayton, Victoria, Australia.
Stacy GoergenMonash Health Imaging, Monash Health, Clayton, Victoria 3168, Australia.ORCID 0000-0001-9668-6809
Amanda SpringerMonash Genetics, Monash Health, Melbourne, Victoria, Australia.
Dean PhelanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.
Melanie MartyVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.
Rebecca HalliganDepartment of Metabolic Medicine, Royal Children's Hospital, Parkville Victoria 3052, Australia.
Joy LeeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.
James PittVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.ORCID 0000-0001-7021-3210
Belinda ChongVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.ORCID 0000-0002-6257-4304
John ChristodoulouDepartment of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia.ORCID 0000-0002-8431-0641
Sebastian LunkeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.ORCID 0000-0002-7168-0723
Zornitza Stark *Australian Genomics Health Alliance, Melbourne, Victoria 3052, Australia.ORCID 0000-0001-8640-1371
Michael Fahey *Monash Genetics, Monash Health, Melbourne, Victoria, Australia.ORCID 0000-0003-0811-4785
Monash Children’s Hospital · AUThe University of Melbourne · AUVictorian Clinical Genetics Services · AURoyal Children's Hospital · AUMonash Health · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in

Indexed as

PurpuraSepsisBrain Diseases, Metabolic, InbornHumansMitochondrial ProteinsNucleocytoplasmic Transport ProteinsETHE1 protein, humanMitochondrial ProteinsNucleocytoplasmic Transport Proteinsacrocyanosisankle clonuscentral hypotoniacerebral ischemiadelayed fine motor developmentdelayed gross motor developmentethylmalonic aciduriapetechiaeprogressive encephalopathyrecurrent cerebral hemorrhage

Identifiers

PMID35165146
PMCPMC8958906
OpenAlexW4212924521

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.