Evidence map›Paper›PMID 35300601›Full record

ArticleBMC cardiovascular disorders2022

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.

Katie B Williams, Michael Horst, Millie Young, Christine Pascua, Erik G Puffenberger, Karlla W Brigatti, Claudia Gonzaga-Jauregui, Alan R Shuldiner, Samuel Gidding, Kevin A Strauss and 1 more

Open access · goldAbstract read
In one paragraph

Article in BMC cardiovascular disorders, 2022. 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
1.3field-weighted citation impact, top 21% 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, 6 citations in OpenAlex.

  1. Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.Journal of cardiovascular development and disease · 2025
    Article
  2. Review
  3. Review
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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

11 authors at 6 institutions in 1 country.

Katie B WilliamsClinic for Special Children, Strasburg, PA, USA.
Michael HorstPenn Medicine Lancaster General Health Data Science & Biostatistics, Lancaster, PA, USA.
Millie YoungClinic for Special Children, Strasburg, PA, USA.
Christine PascuaChildren's Hospital of Philadelphia, Philadelphia, PA, USA.
Erik G PuffenbergerClinic for Special Children, Strasburg, PA, USA.
Karlla W BrigattiClinic for Special Children, Strasburg, PA, USA.
Claudia Gonzaga-JaureguiRegeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
Alan R ShuldinerRegeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
Samuel GiddingDivision of Cardiology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Kevin A StraussClinic for Special Children, Strasburg, PA, USA.
Devyani ChowdhuryDivision of Cardiology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA. dchowdhury@cardiologylancaster.com.
Clinic for Special Children · USRegeneron (United States) · USAlfred I. duPont Hospital for Children · USChildren's Hospital of Philadelphia · USGeisinger Medical Center · USLancaster General Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoB

methodsWe employed advanced lipid profile testing, carotid intima media thickness (CIMT), pulse wave velocity (PWV), and peripheral artery tonometry (PAT) to assess atherosclerosis in a cohort of Amish ApoB

resultsLDL cholesterol (LDL-C) was significantly elevated among ApoB

conclusionsWe provide a detailed description of the serum lipids, atherosclerotic plaque burden, vascular stiffness, and endothelial function among children and young adults with FH due to heterozygous ApoB

Indexed as

AtherosclerosisHyperlipoproteinemia Type IIAmishApolipoproteins BCarotid Intima-Media ThicknessChildCholesterol, LDLHumansMutationPulse Wave AnalysisReceptors, LDLYoung AdultApolipoproteins BCholesterol, LDLReceptors, LDLAmishApolipoproteinCarotid initma-media thicknessCholesterolFamilial hypercholesterolemiaPulse wave velocity

Identifiers

PMID35300601
PMCPMC8928591
OpenAlexW4221060256

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.