Evidence map›Paper›PMID 37347058›Full record

ArticleFrontiers in genetics2023

Case report: The spectrum of SMPD1 pathogenic variants in Hungary.

Maria Judit Molnar, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

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

Article in Frontiers in genetics, 2023. 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
0.2field-weighted citation impact, top 49% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

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

7 authors at 4 institutions in 1 country.

Maria Judit MolnarInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Tamas SzlepakInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Ildikó CsürkeDepartment of Pediatrics, Josa Andras County Hospital, Nyiregyhaza, Hungary.
Szendile LothDepartment of Pediatrics, Semmelweis University, Budapest, Hungary.
Rita KáposztaDepartment of Pediatrics, University of Debrecen, Debrecen, Hungary.
Melinda ErdősPID Clinical Unit and Laboratory, Department of Dermatology, Venereology, and Dermatooncology, Semmelweis University, Budapest, Hungary.
Antal DezsőfiDepartment of Pediatrics, Semmelweis University, Budapest, Hungary.
Semmelweis University · HUHungarian Research NetworkJósa András Múzeum · HUUniversity of Debrecen · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (

Indexed as

acid sphingomyelinase deficiency type A/BASMDintermediate-type acid sphingomyelinase deficiencyNiemann-Pick disease type A/BSMPD1

Identifiers

PMID37347058
PMCPMC10280011
OpenAlexW4379537098

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.