Evidence map›Paper›PMID 41859732›Full record

ArticleMolecular genetics and metabolism reports2026

Autosomal recessive

Anne Chun-Hui Tsai, Hsuan-Tung Lee, Bianca Sanchez, Yu-Ren Huang, Sarah Krysinski, Alice Zalan, Erin Falsey

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

Article in Molecular genetics and metabolism 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

7 authors.

Anne Chun-Hui TsaiDivision of Genetics, Department of Clinical Pediatrics, University of Illinois Chicago, 840 S. Wood Street, Chicago, IL 60612, USA.
Hsuan-Tung LeeDivision of Genetics, Department of Clinical Pediatrics, University of Illinois Chicago, 840 S. Wood Street, Chicago, IL 60612, USA.
Bianca SanchezDepartment of Clinical Pediatrics, University of Colorado, 80045, USA.
Yu-Ren HuangDepartment of Genetics and Genomic Sciences, Case Western Reserve University and University Hospitals, Cleveland, OH 44106, USA.
Sarah KrysinskiDivision of Genetics, Department of Clinical Pediatrics, University of Illinois Chicago, 840 S. Wood Street, Chicago, IL 60612, USA.
Alice ZalanDivision of Genetics, Department of Clinical Pediatrics, University of Illinois Chicago, 840 S. Wood Street, Chicago, IL 60612, USA.
Erin FalseyDivision of Genetics, Department of Clinical Pediatrics, University of Illinois Chicago, 840 S. Wood Street, Chicago, IL 60612, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ELOVL1-related disorders are typically characterized by neurological and dermatological features. We present a novel case of severe neonatal cholestasis in a female neonate with autosomal recessive inheritance with a homozygous variant in

Indexed as

Bile acid metabolismCholic acid therapyELOVL1-related disordersNeonatal cholestasisVery-long-chain fatty acids

Identifiers

PMID41859732
PMCPMC12996810

What OpenQuestion holds

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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.