Evidence map›Paper›PMID 33101983›Full record

ArticleMolecular genetics and metabolism reports2020

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a

Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg

Open access · goldAbstract readCase Reports
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 49% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  2. Review
  3. Article
  4. The Effect of aCells · 2022
    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

7 authors at 1 institution in 1 country.

Whiwon LeeCentre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Gregory CostainCentre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Susan BlaserDepartment of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
Susan WalkerThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Christian R MarshallCentre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Hernan GonorazkyDivision of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Michal Inbar-FeigenbergDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Hospital for Sick Children · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Defects in

Indexed as

ES, exome sequencingGenetic testingGenome sequencinggnomAD, Genome Aggregate DatabaseGS, genome sequencingIRD, infantile Refsum diseaseMAF, minor allele frequencyNALD, neonatal adrenoleukodystrophyPBD, peroxisome biogenesis disorderPeroxisome biogenesis disorderPEX3PMP, peroxisomal membrane proteinRCDP, rhizomelic chondrodysplasia punctataVLCFA, very-long chain fatty acidsX-ALD, X-linked adrenoleukodystrophyZellweger spectrum disorderZSD, Zellweger spectrum disorderZS, Zellweger syndrome

Identifiers

PMID33101983
PMCPMC7578253
OpenAlexW3093570304

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.