Evidence map›Paper›PMID 41157259›Full record

ArticleLife (Basel, Switzerland)2025

Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome.

Luigi Boccuto, Giuseppe Guido Maria Scarlata, Bridgette A Moffitt, Sara M Sarasua, Katy Phelan, Curtis Rogers, Ludovico Abenavoli

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Life (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

7 authors.

Luigi BoccutoHealthcare Genetics and Genomics Program, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0003-2017-4270
Giuseppe Guido Maria ScarlataDepartment of Health Sciences, University "Magna Græcia", 88100 Catanzaro, Italy.ORCID 0000-0002-7084-8264
Bridgette A MoffittHealthcare Genetics and Genomics Program, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0002-5906-2391
Sara M SarasuaHealthcare Genetics and Genomics Program, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0002-1625-7404
Katy PhelanGenetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL 33908, USA.ORCID 0000-0003-2457-6226
Curtis RogersGreenwood Genetic Center, Greenville, SC 29605, USA.
Ludovico AbenavoliDepartment of Health Sciences, University "Magna Græcia", 88100 Catanzaro, Italy.ORCID 0000-0002-5922-1524

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPhelan-McDermid syndrome (PMS), caused by

methodsWe describe a 25-year-old male with PMS due to a 22q13.33 microdeletion involving

resultsUltrasound revealed moderate hepatic steatosis consistent with MASLD. After ursodeoxycholic acid treatment and a Mediterranean-style diet, steatosis improved to mild. Metabolic profiling demonstrated increased nicotinamide adenine dinucleotide generation under metabolic stimuli, suggesting altered energy homeostasis.

conclusionsWe highlight the contribution of

Indexed as

diagnosisgenetic mutationsguidelinesliver steatosispathogenesistreatment

Identifiers

PMID41157259
PMCPMC12565668

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.