Evidence map›Paper›PMID 33359301›Full record

ArticleThe Journal of pediatrics2021

Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.

Xin Si, Lea C Steffes, Jennifer C Schymick, Florette K Hazard, Michael C Tracy, David N Cornfield

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

Article in The Journal of pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 32% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  2. Review
  3. Review
  4. Novel Compound Heterozygous Mutation of theJournal of clinical medicine · 2025
    Article
  5. Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025
    Review
  6. 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 2 institutions in 1 country.

Xin SiDivision of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA. Electronic address: cxsi@stanford.edu.
Lea C SteffesDivision of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
Jennifer C SchymickDivision of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
Florette K HazardDivision of Pathology, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
Michael C TracyDivision of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
David N CornfieldDivision of Pediatric Pulmonary, Center for Excellence in Pulmonary Biology, Asthma and Sleep Medicine, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford University, Stanford, CA.
Lucile Packard Children's Hospital · USStanford University · US

Funding

Stanford Training Program in Lung BiologyT32HL129970 · NHLBI · STANFORD UNIVERSITY · PI CORNFIELD, DAVID N., NICOLLS, MARK ROBERT · 2016 to 2025
$3.2M
NHLBI NIH HHS T32 HL129970
6 · The paper itself

Abstract

ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.

Indexed as

ATP-Binding Cassette TransportersHumansInfant, NewbornMaleMutationRespiratory Distress Syndrome, NewbornABCA3 protein, humanATP-Binding Cassette TransportersABCA3neonatal respiratory failuresurfactant deficiency

Identifiers

PMID33359301
PMCPMC8031471
OpenAlexW3116081418

What OpenQuestion holds

Textmetadata
LicenceTDM
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.