Evidence map›Paper›PMID 42344162›Full record

ArticleEuropean heart journal. Case reports2026

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report.

Morten Hostrup Martinsen, Allan Højland, Helene Kvistgaard, Christian Bork

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European heart journal. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Morten Hostrup MartinsenDepartment of Cardiology, Aalborg University Hospital, Hospitalsbyen 1, 9260 Gistrup, Denmark.ORCID https://orcid.org/0000-0002-1971-0622
Allan HøjlandDepartment of Clinical Medicine, Aalborg University, Selma Lagerløfs Vej 249, 9260 Gistrup, Denmark.
Helene KvistgaardDepartment of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, Denmark.
Christian BorkDepartment of Cardiology, Aalborg University Hospital, Hospitalsbyen 1, 9260 Gistrup, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Cholesteryl ester storage disease (CESD) is a rare genetic disorder caused by homozygous or compound heterozygous pathogenic variants in the lipase A ( Case summary: Here we describe a girl with biochemistry similar to familial hypercholesterolaemia (FH) having a total cholesterol of 9.3 mmol/L, low-density lipoprotein cholesterol of 7.1 mmol/L, triglycerides of 2.7 mmol/L, and alanine transaminase of 354 U/L. Whole genome sequencing found her to be compound heterozygous for NM_000235.4:c.894G>A p.(Gln298=) and NM_000235.4:c.419G>A p.(Trp140*) in the Discussion: This case report highlights the difficulties in diagnosing a rare subclinical disease with similarities to FH followed by discussion of current treatment options.

Indexed as

Case reportCholesteryl ester storage diseaseElevated liver enzymesFamilial hypercholesterolaemia

Identifiers

PMID42344162
PMCPMC13289743

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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.