Evidence map›Paper›PMID 32532878›Full record

ArticleCold Spring Harbor molecular case studies2020

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Zoltán N Oltvai, Eric A Smith, Katie Wiens, Lawrence M Nogee, Mark Luquette, Andrew C Nelson, Kathryn A Wikenheiser-Brokamp

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

Article in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Old and emerging therapies for childhood interstitial lung disease (chILD): a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026
    Pooled it
  2. Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.American journal of respiratory cell and molecular biology · 2026
    Article
  3. Lentiviral-mediated gene complementation rescues pathogenicbioRxiv : the preprint server for biology · 2025
    Article
  4. Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025
    Article
  5. Biomedicines · 2024
    Review
  6. Review
  7. Article
  8. 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 5 institutions in 1 country.

Zoltán N Oltvai *Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
Eric A Smith *Medical Science Training Program, University of Cincinnati College of Medicine, Cincinnati, Ohio 45219, USA.
Katie WiensDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
Lawrence M NogeeDepartment of Pediatrics, Johns Hopkins University, Baltimore, Maryland 21287, USA.
Mark LuquetteDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
Andrew C NelsonDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
Kathryn A Wikenheiser-BrokampDivision of Pathology and Laboratory Medicine and The Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
University of Minnesota · USCincinnati Children's Hospital Medical Center · USJohns Hopkins University · USUniversity of Cincinnati Medical Center · USUniversity of Rochester · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The ATP-binding cassette transporter member A3 (ABCA3) is a lipid transporter with a critical function in pulmonary surfactant biogenesis. Biallelic loss-of-function mutations in

Indexed as

Genetic Association StudiesHeterozygoteMutationPhenotypeATP-Binding Cassette TransportersBiopsyDisease ProgressionDNA Mutational AnalysisHigh-Throughput Nucleotide SequencingHumansImmunohistochemistryInfant, NewbornLung TransplantationMaleRespiratory Function TestsRespiratory InsufficiencyABCA3 protein, humanATP-Binding Cassette Transporterscyanosisprogressive pulmonary function impairmentrespiratory insufficiency

Identifiers

PMID32532878
PMCPMC7304364
OpenAlexW3034765526

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.