In one paragraphArticle in Journal of clinical medicine, 2025. 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
16 authors.
Anna CavalliChild Neurology and Psychiatry Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0001-5976-1873 Francesca PelusoMedical Genetics Unit, Santa Maria Nuova Hospital, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-0976-1258 Daniele FrattiniChild Neurology and Psychiatry Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Carlo Alberto CesaroniChild Neurology and Psychiatry Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0003-0092-5604 Carolina BondiNeonatal Intensive Care Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-9594-6442 Giovanni MalmusiNeonatal Intensive Care Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Adelaide PeruzziMedical Genetics Unit, Santa Maria Nuova Hospital, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Susanna RizziChild Neurology and Psychiatry Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-8856-9722 Agnese PantaniChild Neurology and Psychiatry Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0009-0000-1501-0146 Gabriele TrimarchiMedical Genetics Unit, Santa Maria Nuova Hospital, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0009-0000-8236-8316 Nives MelliNeonatal Intensive Care Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9037-4297 Roberta ZuntiniMedical Genetics Unit, Santa Maria Nuova Hospital, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Giancarlo GarganoNeonatal Intensive Care Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Livia GaravelliMedical Genetics Unit, Santa Maria Nuova Hospital, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Carlo FuscoChild Neurology and Psychiatry Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0001-9321-0952 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
MEDNIK syndrome (Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis and Keratodermia) is a severe hyper-rare condition resulting from the biallelic variants in the
Indexed as
AP1S1copper metabolism disordersElesclomolfeeding-triggered seizuresIDEDNIKMEDNIK syndromemetabolic epilepsyneonatal seizures
Identifiers
PMID41517358
PMCPMC12786643
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