Evidence map›Paper›PMID 42650830›Full record

SynthesisBiomolecules2026

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.

Bartosz Rodziewicz, Mikołaj Kacperski, Kacper Kisiński, Marta Zawadzka, Anna Kalicka, Agnieszka Sawicka, Beata Lipska-Ziętkiewicz, Maria Mazurkiewicz-Bełdzińska

Abstract readSystematic ReviewReview
In one paragraph

Synthesis in Biomolecules, 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

8 authors.

Bartosz RodziewiczDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.ORCID 0009-0003-1925-9952
Mikołaj KacperskiDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.ORCID 0009-0004-5921-7324
Kacper KisińskiDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.ORCID 0009-0003-5968-8903
Marta ZawadzkaDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.ORCID 0000-0003-4562-1882
Anna KalickaClinical Genetics Unit, Rare Diseases Centre, University Clinical Center, 80-210 Gdansk, Poland.
Agnieszka SawickaDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.
Beata Lipska-ZiętkiewiczClinical Genetics Unit, Rare Diseases Centre, University Clinical Center, 80-210 Gdansk, Poland.
Maria Mazurkiewicz-BełdzińskaDepartment of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Loss-of-function (LoF) variants in the

Indexed as

Charcot-Marie-Tooth DiseaseFoot Deformities, CongenitalHearing Loss, SensorineuralOptic AtrophyRibose-Phosphate PyrophosphokinaseAdolescentAdultAtaxiaDeaf-Blind DisordersDisease ProgressionFemaleGenetic Diseases, X-LinkedHumansMalePedigreePRPS1 protein, humanRibose-Phosphate Pyrophosphokinasediagnostic latencyneurometabolic disordersPRPS1sensorineural hearing loss

Identifiers

PMID42650830
PMCPMC13511699

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.