Evidence map›Paper›PMID 36936426›Full record

ArticleFrontiers in genetics2023

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura and 3 more

Open access · goldFull text 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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Review
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

13 authors at 1 institution in 1 country.

Alessia MauriDepartment of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
Laura Assunta SaielliCenter of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Enrico AlfeiPediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
Maria IasconeMedical Genetics Laboratory, Bergamo, Italy.
Daniela MarchettiMedical Genetics Laboratory, Bergamo, Italy.
Elisa CattaneoClinical Genetics Unit, Buzzi Children's Hospital, Milan, Italy.
Anna Di LauroCenter of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Laura AntonelliCenter of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Luisella AlbertiCenter of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Eleonora BonaventuraPediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
Pierangelo VeggiottiDepartment of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
Luigina SpacciniClinical Genetics Unit, Buzzi Children's Hospital, Milan, Italy.
Cristina CeredaCenter of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Ospedale dei Bambini Vittore Buzzi · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ACY deficiencycase reportdelayed copper therapyMenkes diseasenovel ATP7A variantoverlapping phenotype

Identifiers

PMID36936426
PMCPMC10017521
OpenAlexW4322773088

What OpenQuestion holds

Textfull text, public
LicenceCC BY
reference markers read1
measurements read15
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.