Evidence map›Paper›PMID 35822098›Full record

ArticleJIMD reports2022

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.

Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard de Jong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 37% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Ornithine transcarbamylase deficiency: A diagnostic odyssey.Journal of inherited metabolic disease · 2022
    Article
  5. Article
  6. 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 at 4 institutions in 1 country.

Ashley HertzogNSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.ORCID https://orcid.org/0000-0001-7926-8576
Arthavan SelvanathanGenetic Metabolic Disorders Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Rebecca HalliganMetabolic Unit Women's and Children's Hospital Adelaide South Australia Australia.
Timothy FazioMetabolic Diseases Unit Royal Melbourne Hospital Parkville Victoria Australia.
Gerard de JongMetabolic Diseases Unit Royal Melbourne Hospital Parkville Victoria Australia.
Drago BratkovicMetabolic Unit Women's and Children's Hospital Adelaide South Australia Australia.
Kaustuv BhattacharyaGenetic Metabolic Disorders Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Adviye Ayper TolunNSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Bruce BennettsDisciplines of Genomic Medicine and Child and Adolescent Health Faculty of Medicine and Health, University of Sydney Sydney New South Wales Australia.
Katrina FiskDepartment of Molecular Genetics Western Sydney Genetics Program, The Children's Hospital at Westmead Westmead New South Wales Australia.
Children's Hospital at Westmead · AUThe University of Sydney · AUThe Royal Melbourne Hospital · AUWomen's and Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%-90% of the causative variants are identified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA) of the

Indexed as

inborn errors of metabolismornithine transcarbamylase deficiencypromoter variantsurea cycle disorder

Identifiers

PMID35822098
PMCPMC9259394
OpenAlexW4223650568

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.