Evidence map›Paper›PMID 34421504›Full record

ArticleMolecular syndromology2021

Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in

Elda Ariadna Flores-Contreras, José Elías García-Ortiz, Carla Daniela Robles-Espinoza, Viviana Zomosa-Signoret, Luis Eduardo Becerra-Solano, Román Vidaltamayo, Carolina Castaneda-García, Eduardo Esparza-García, Christian Molina-Aguilar, Angélica Alejandra Hernández-Orozco and 1 more

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 57% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

11 authors at 5 institutions in 2 countries.

Elda Ariadna Flores-ContrerasDepartamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.
José Elías García-OrtizDivisión de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico.
Carla Daniela Robles-EspinozaLaboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Santiago de Querétaro, Mexico.
Viviana Zomosa-SignoretDepartamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.
Luis Eduardo Becerra-SolanoDivisión de Ciencias Biomédicas, Departamento de Clínicas, CUALTOS Universidad de Guadalajara, Tepatitlán, Mexico.
Román VidaltamayoDepartment of Basic Science, School of Medicine, Universidad de Monterrey, San Pedro GG, Mexico.
Carolina Castaneda-GarcíaLaboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Santiago de Querétaro, Mexico.
Eduardo Esparza-GarcíaUMAE Hospital de Pediatría, CMNO-IMSS, Guadalajara, Mexico.
Christian Molina-AguilarLaboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Santiago de Querétaro, Mexico.
Angélica Alejandra Hernández-OrozcoDivisión de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico.
Carlos Córdova-FletesDepartamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.
Universidad Autónoma de Nuevo León · MXUniversidad Nacional Autónoma de México · MXUniversidad de Guadalajara · MXUniversity of Monterrey · MXWellcome Sanger Institute · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sialidosis is a rare autosomal recessive disease that presents with progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by homozygous or compound heterozygous sequence variants in the neuraminidase 1 (

Indexed as

Clinical exome sequencingPhenotypic variabilityRare variantSialidase-1Sialidosis diagnosisTridimensional modeling

Identifiers

PMID34421504
PMCPMC8339489
OpenAlexW3174026334

What OpenQuestion holds

Textmetadata
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.