Evidence map›Paper›PMID 33652762›Full record

ArticleGenes2021

Two Italian Patients with

Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.6field-weighted citation impact, top 34% 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

10 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
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  5. Article
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  7. Review
  8. Review
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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

10 authors at 1 institution in 1 country.

Andrea DiociaiutiDermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0003-0879-9825
Diego MartinelliDivision of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.
Francesco NicitaUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.ORCID 0000-0002-5612-821X
Claudia CesarioLaboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.
Elisa PisaneschiLaboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.
Marina MacchiaioloRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.
Sabrina RossiPathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.
Angelo Giuseppe CondorelliGenodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0003-1502-5852
Giovanna ZambrunoGenodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.
May El HachemDermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.
Bambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in

Indexed as

MutationChild, PreschoolEye ProteinsHumansIchthyosisItalyMaleMembrane ProteinsSkinELOVL4 protein, humanEye ProteinsMembrane Proteinscollodion babydevelopmental delaydysmorphismelectron microscopyELOVL4epilepsyichthyosisvisual evoked potentials

Identifiers

PMID33652762
PMCPMC7996761
OpenAlexW3135140614

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.