Evidence map›Paper›PMID 37373084›Full record

ArticleInternational journal of molecular sciences2023

New Cases and Mutations in

Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María Del Carmen Fernández Valle, David Beneitez Pastor and 7 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

17 authors at 9 institutions in 1 country.

Melina Mara MusriBloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Veronica VenturiDepartment of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vallès, Spain.
Xènia Ferrer-CortèsBloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.
Lídia Romero-CortadellasDepartment of Basic Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vallès, Spain.ORCID 0000-0003-1080-3774
Gonzalo HernándezBloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.ORCID 0000-0002-3048-9607
Pilar LeozRed Blood Cell Disorders Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.ORCID 0000-0002-1139-5373
María Pilar Ricard AndrésHematology and Hemotherapy, Hospital Universitario Fundación Alcorcón, Avda Budapest, 28922 Alcorcon, Spain.ORCID 0000-0002-8387-0137
Marta MoradoDepartment of Hematology, University Hospital La Paz, 28046 Madrid, Spain.
María Del Carmen Fernández ValleHospital Universitario Puerta del Mar, 11009 Cádiz, Spain.
David Beneitez PastorRed Blood Cell Disorders Unit, Hematology Department, Hospital Universitari Vall d'Hebron, VHIO, VHIR, 08035 Barcelona, Spain.
Ana Ortuño CabreroRed Blood Cell Disorders Unit, Hematology Department, Hospital Universitari Vall d'Hebron, VHIO, VHIR, 08035 Barcelona, Spain.
Maite Moreno GamizHospital Universitario Cruces, 48903 Barakaldo, Spain.
Leonor Senent PerisLaboratory of Cytomorphology, Unity of Hematologic Diagnostic, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain.
Amanda Isabel Perez-ValenciaDepartment of Hematology, Hospital Clínic de Barcelona, 08036 Barcelona, 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 SánchezBloodGenetics S.L. Diagnostics in Inherited Blood Diseases, 08950 Esplugues de Llobregat, Spain.ORCID 0000-0002-6499-5989
Universitat Internacional de Catalunya · ESVall d'Hebron Institut de Recerca · ESHospital Clínic de Barcelona · ESHospital de Cruces · ESHospital de Sant Pau · ESHospital Universitari i Politècnic La Fe · ESHospital Universitario Fundación Alcorcón · ESHospital Universitario La Paz · ESHospital Universitario Puerta del Mar · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This often leads to liver iron overload and gallstones. CDA II is caused by biallelic mutations in the

Indexed as

Anemia, Dyserythropoietic, CongenitalAllelesExonsHumansMutationMutation, MissenseVesicular Transport ProteinsSEC23B protein, humanVesicular Transport ProteinsCDA type IIcongenital dyserythropoietic anemiahereditary anemiasineffective erythropoiesismutationsrare blood diseaseSEC23Bvariants

Identifiers

PMID37373084
PMCPMC10298408
OpenAlexW4380089253

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.