Evidence map›Paper›PMID 42614189›Full record

ArticleAnnals of internal medicine. Clinical cases2026

Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.

Yaqqira H M Womack, Misha B Asif, Fadi E Shamoun, Linnea M Baudhuin, Mayowa A Osundiji

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of internal medicine. Clinical cases, 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

5 authors.

Yaqqira H M WomackDepartment of Research, Mayo Clinic, Phoenix, Arizona.
Misha B AsifDepartment of Clinical Genomics, Mayo Clinic, Phoenix, Arizona.
Fadi E ShamounDivision of Cardiology, Mayo Clinic, Phoenix, Arizona.
Linnea M BaudhuinDepartment of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, Minnesota.
Mayowa A OsundijiDepartment of Clinical Genomics, Mayo Clinic, Phoenix, Arizona.

Funding

Expert curation of sequence variants in the proximal urea cycle genesU24HD108087 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI AH MEW, NICHOLAS, CALDOVIC, LJUBICA MORIZONO · 2023 to 2025
$1.2M
NICHD NIH HHS U24 HD108087
6 · The paper itself

Abstract

Abetalipoproteinemia (ABL) affects fewer than 1 per 1 million people, whereas neurofibromatosis type 1 (NF1) occurs in approximately 1 in 3000 to 4000 individuals. We describe the clinical findings in a 38-year-old woman with both disorders. ABL was diagnosed in the neonatal period, followed by NF1 at age 7 years based on multiple café-au-lait spots, intertriginous freckling, and Lisch nodules. Genetic testing revealed a homozygous pathogenic

Indexed as

AbetalipoproteinemiaClinical geneticsDiagnostic medicineFatty acidsGenetic testingLipidsNeurofibromatosis type 1PathogenesisPhenotypesProteinsVery low–density lipoprotein

Identifiers

PMID42614189
PMCPMC13481154

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.