Evidence map›Paper›PMID 42763474›Full record

ArticleJIMD reports2026

A Variant in Abhydrolase Domain Containing 14A (

Lil Klaas, Estrella López-Martín, Beatriz Martinez-Delgado, Manuel Posada de la Paz, Antonia Ribes, Jörn Oliver Sass

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. 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

6 authors.

Lil KlaasResearch Group Inborn Errors of Metabolism, Department of Natural Sciences, Institute for Functional Gene Analytics (IFGA) Bonn-Rhein-Sieg University of Applied Sciences Rheinbach Germany.ORCID https://orcid.org/0009-0006-8198-7434
Estrella López-MartínInstituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII) Madrid Spain.ORCID https://orcid.org/0000-0003-3212-1424
Beatriz Martinez-DelgadoInstituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII) Madrid Spain.ORCID https://orcid.org/0000-0001-6834-350X
Manuel Posada de la PazInstituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII) Madrid Spain.ORCID https://orcid.org/0000-0002-8372-4180
Antonia RibesInstitut de Investigacions Biomèdiques August Pi-Sunyer (IDIBAPS), Hospital Clínic University of Barcelona Barcelona Spain.ORCID https://orcid.org/0000-0002-2249-246X
Jörn Oliver SassResearch Group Inborn Errors of Metabolism, Department of Natural Sciences, Institute for Functional Gene Analytics (IFGA) Bonn-Rhein-Sieg University of Applied Sciences Rheinbach Germany.ORCID https://orcid.org/0000-0003-2903-4872

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aminoacylase 1 (ACY1) deficiency is a rare autosomal recessive inborn error of metabolism, characterised by accumulation of

Indexed as

abhydrolase domain containing 14A (ABHD14A)ACY1aminoacylase 1 deficiencyinborn error of metabolismnon‐mediated RNA decay (NMD)read‐through transcript

Identifiers

PMID42763474
PMCPMC13588756

What OpenQuestion holds

Textmetadata
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.