Evidence map›Paper›PMID 34064225›Full record

ArticleInternational journal of molecular sciences2021

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.

Ferran Celma Nos, Gonzalo Hernández, Xènia Ferrer-Cortès, Ines Hernandez-Rodriguez, Begoña Navarro-Almenzar, José Luis Fuster, Mar Bermúdez Cortés, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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
1.6field-weighted citation impact, top 16% 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, 16 citations in OpenAlex.

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  9. Hereditary Hyperferritinemia.International journal of molecular sciences · 2023
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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 3 institutions in 1 country.

Ferran Celma NosIron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.ORCID 0000-0002-2245-2740
Gonzalo HernándezIron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.
Xènia Ferrer-CortèsIron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.
Ines Hernandez-RodriguezHematology Service, University Hospital Germans Trias i Pujol (HGTiP), Institut Català d'Oncología (ICO), 08916 Badalona, Spain.
Begoña Navarro-AlmenzarHematology and Hemotherapy Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain.ORCID 0000-0002-0023-4603
José Luis FusterPediatric OncoHematology Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain.ORCID 0000-0002-4881-9440
Mar Bermúdez CortésPediatric OncoHematology Service, Clinic University Hospital Virgen de la Arrixaca, Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain.
Santiago Pérez-MonteroBloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Cristian TornadorBloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Mayka SanchezIron Metabolism: Regulation and Diseases, Department of Basic Sciences, Universitat Internacional de Catalunya (UIC), 08195 Sant Cugat del Vallès, Spain.ORCID 0000-0002-6499-5989
Universitat Internacional de Catalunya · ESInstituto Murciano de Investigación Biosanitaria · ESInstitut Català d'Oncologia · ES

Funding

Agència de Gestió d'Ajuts Universitaris i de Recerca 2019FI-B00794Ministerio de Economía, Industria y Competitividad, Gobierno de España RTI-2018-101735-B-I100
6 · The paper itself

Abstract

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5' untranslated regions (UTR) of the light ferritin (

Indexed as

AdultCataractChildFemaleFerritinsHumansIronIron Metabolism DisordersIron-Regulatory ProteinsMutationFerritinsIronIron-Regulatory ProteinscataractsFTL genehereditary hyperferritinemia cataract syndromeHHCShyperferritinemiaIREIRPserum ferritin

Identifiers

PMID34064225
PMCPMC8196845
OpenAlexW3162543661

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.