Evidence map›Paper›PMID 40724921›Full record

ReviewInternational journal of molecular sciences2025

Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.

Aleksandra Żukowska, Małgorzata Król, Patrycja Kupnicka, Katarzyna Bąk, Kamil Janawa, Dariusz Chlubek

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of molecular sciences, 2025. 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
–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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. 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

6 authors.

Aleksandra ŻukowskaDepartment of Biochemistry and Medical Chemistry, Pomeranian Medical University in Szczecin, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.ORCID 0009-0001-8661-9116
Małgorzata KrólDepartment of Biochemistry and Medical Chemistry, Pomeranian Medical University in Szczecin, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.ORCID 0009-0008-8658-4356
Patrycja KupnickaDepartment of Biochemistry and Medical Chemistry, Pomeranian Medical University in Szczecin, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.ORCID 0000-0002-0756-6483
Katarzyna BąkClinical Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, 70-111 Szczecin, Poland.
Kamil JanawaDepartment of Biochemistry and Medical Chemistry, Pomeranian Medical University in Szczecin, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.ORCID 0009-0004-6779-7066
Dariusz ChlubekDepartment of Biochemistry and Medical Chemistry, Pomeranian Medical University in Szczecin, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.ORCID 0000-0003-4497-4395

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive genetic disorder caused by mutations in the

Indexed as

CholesterolOxysterolsSmith-Lemli-Opitz SyndromeAnimalsCholic AcidGenetic TherapyGlial Fibrillary Acidic ProteinHumansHydroxymethylglutaryl-CoA Reductase InhibitorsLiquid Chromatography-Mass SpectrometryLiver TransplantationMagnetic Resonance ImagingMiceTandem Mass SpectrometryVitamin ECholesterolCholic AcidGFAP protein, humanGlial Fibrillary Acidic ProteinHydroxymethylglutaryl-CoA Reductase InhibitorsOxysterolsVitamin Echolesterol pathwayDHCR7SLOSSmith–Lemli–Opitz syndrome

Identifiers

PMID40724921
PMCPMC12296013

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.