Evidence map›Paper›PMID 41550690›Full record

ArticleJIMD reports2026

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

Samuel Quinn Tholl, Wendy McCaul, Anthony Rupar, Melanie P Napier, Natalya Karp, Andrea C Yu, Suzanne Ratko, Aneal Khan, Michael Geraghty, Chitra Prasad

Abstract read
In one paragraph

Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

10 authors.

Samuel Quinn ThollWestern University London Ontario Canada.ORCID https://orcid.org/0000-0002-2989-9377
Wendy McCaulDepartment of Pathology and Biochemistry London Health Sciences Centre London Ontario Canada.
Anthony RuparWestern University London Ontario Canada.
Melanie P NapierGeneDx Gaithersburg Maryland USA.
Natalya KarpWestern University London Ontario Canada.
Andrea C YuChildren's Hospital of Eastern Ontario Ottawa Ontario Canada.
Suzanne RatkoDepartment of Paediatrics London Health Sciences Centre London Ontario Canada.
Aneal KhanCumming School of Medicine University of Calgary Calgary Alberta Canada.
Michael GeraghtyChildren's Hospital of Eastern Ontario Ottawa Ontario Canada.
Chitra PrasadWestern University London Ontario Canada.ORCID https://orcid.org/0000-0001-6007-7251

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ornithine transcarbamylase (OTC) deficiency can present during the neonatal period, infancy, or adulthood. Late-onset phenotypes are influenced by residual enzyme activity and

Indexed as

hyperammonemialate‐onset OTC deficiencyOTC gene promoter regionurea cycle disorderX‐linked inheritance

Identifiers

PMID41550690
PMCPMC12808918

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.