Evidence map›Paper›PMID 33598246›Full record

ArticleClinical case reports2021

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in

Antonio Miguel Poyatos-Andújar, Susana García-Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 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
0.6field-weighted citation impact, top 32% 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, 8 citations in OpenAlex.

  1. Review
  2. Article
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

7 authors at 2 institutions in 1 country.

Antonio Miguel Poyatos-AndújarUGC de Laboratorios Laboratorio de Genética Hospital Universitario San Cecilio Granada Spain.ORCID https://orcid.org/0000-0003-4559-2647
Susana García-LinaresUGC de Laboratorios Laboratorio de Genética Hospital Universitario San Cecilio Granada Spain.
Pilar CarreteroDepartment of Obstetrics and Gynecology Hospital Universitario San Cecilio Instituto de Investigación Biosanitaria IBS Granada Spain.
Olga OconDepartment of Obstetrics and Gynecology Hospital Universitario San Cecilio Instituto de Investigación Biosanitaria IBS Granada Spain.
Dolores FresnedaDepartment of Obstetrics and Gynecology Hospital Universitario San Cecilio Instituto de Investigación Biosanitaria IBS Granada Spain.
Laura GortSecció d'Errors Congènits del Metabolisme -IBC Servei de Bioquímica i Genètica Molecular Hospital Clínic IDIBAPS, CIBERER Barcelona Spain.
Francisa Sonia Molina GarcíaDepartment of Obstetrics and Gynecology Hospital Universitario San Cecilio Instituto de Investigación Biosanitaria IBS Granada Spain.
Instituto de Investigación Biosanitaria de Granada · ESCentro de Investigación Biomédica en Red · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.

Indexed as

clinical exome sequencingglycosaminoglycansMucopolysaccharidosis VIIprenatal diagnosisSly syndromeβ‐glucuronidase

Identifiers

PMID33598246
PMCPMC7869334
OpenAlexW3111048843

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.