Evidence map›Paper›PMID 36225138›Full record

ArticleJournal of inherited metabolic disease2023

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

Lisa M Crowther, Martin Poms, Martina Zandl-Lang, Lucia Abela, Hans Hartmann, Michelle Seiler, Déborah Mathis, Barbara Plecko

Open access · hybridAbstract read
In one paragraph

Article in Journal of inherited metabolic disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 33% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

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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

8 authors at 5 institutions in 5 countries.

Lisa M CrowtherDivision of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
Martin PomsDivision of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.ORCID 0000-0002-4426-314X
Martina Zandl-LangDepartment of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
Lucia AbelaDivision of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
Hans HartmannDepartment of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
Michelle SeilerPediatric Emergency Department, University Children's Hospital Zurich, Zurich, Switzerland.
Déborah MathisDepartment of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.ORCID 0000-0002-2326-7782
Barbara PleckoDivision of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.ORCID 0000-0002-3203-1325
Medical University of Graz · ATUniversity Children's Hospital Zurich · CHUniversity of Zurich · CHMedizinische Hochschule Hannover · DEUniversity of Bern · CH

Funding

Swiss National Science Foundation 320030_163302
6 · The paper itself

Abstract

Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B

Indexed as

EpilepsyPyridoxineAldehyde DehydrogenaseHumansLysineMetabolomicsSeizuresAldehyde DehydrogenaseLysinePyridoxineantiquitin deficiencylysine catabolismmetabolomicsNPCsPDE-ALDH7A1pyridoxine

Identifiers

PMID36225138
PMCPMC10092344
OpenAlexW4304823086

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.