Evidence map›Paper›PMID 34258138›Full record

ArticleJIMD reports2021

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct

Sylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. AMolecular therapy. Methods & clinical development · 2024
    Article
  3. Morquio B disease: a case report.Frontiers in pediatrics · 2024
    Article
  4. Article
  5. Article
  6. 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

15 authors at 5 institutions in 2 countries.

Sylvia Stockler-IpsirogluDepartment of Pediatrics University of British Columbia Vancouver Canada.ORCID https://orcid.org/0000-0002-6542-423X
Nahid YazdanpanahDepartment of Pediatrics University of British Columbia Vancouver Canada.
Mojgan YazdanpanahDepartment of Pediatrics University of British Columbia Vancouver Canada.
Marioara Moisa PopursDepartment of Pediatrics University of British Columbia Vancouver Canada.
Nataliya YuskivDepartment of Pediatrics University of British Columbia Vancouver Canada.
Mara Lúcia Schmitz Ferreira SantosHospital Infantil Pequeno Príncipe Curitiba Brazil.
Chong Ae KimInstituto da Criança, Faculdade de Medicina, USP São Paulo Brazil.
Carolina Fischinger Moura de SouzaServiço de Genética Médica, HCPA Porto Alegre Brazil.
Charles Marques LourençoFaculdade de Medicina Centro Universitário Estácio Ribeirão Preto Brazil.
Carlos Eduardo SteinerDepartamento de Genética Médica, Faculdade de Medicina UNICAMP Campinas Brazil.
Andressa FederhenServiço de Genética Médica, HCPA Porto Alegre Brazil.
Luciana GiuglianiServiço de Genética Médica, HCPA Porto Alegre Brazil.
Débora Maria Bastos PereiraServiço de Genética Médica, HCPA Porto Alegre Brazil.
Luz Elena Durán-CarabaliPrograma de Pós-Graduação em Ciências Biológicas: Fisiologia, UFRGS Porto Alegre Brazil.
Roberto GiuglianiServiço de Genética Médica, HCPA Porto Alegre Brazil.
University of British Columbia · CAHospital de Clínicas de Porto Alegre · BRUniversidade Federal do Rio Grande do Sul · BRHospital Erasto Gaertner · BRUniversidade Estadual de Campinas (UNICAMP) · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMorquio B disease (MBD) is a distinct OBJECTIVES AND

methodsWith the aim to further describe patterns of MBD-related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with

resultsAbout 14 of the 17 individuals had three or more skeletal findings characteristic of Morquio syndrome. Two had no additional neuronopathic features (

conclusionOur study extends the phenotypic spectrum of GLB1-related conditions by describing a cohort of patients with MBD and GM1-gangliosidosis (

Indexed as

dystoniakeratan sulfatemucopolysaccharidosis type IVBspondyloepiphyseal dysplasiatype 3 GM1 gangliosidosisβ‐galactosidase

Identifiers

PMID34258138
PMCPMC8260481
OpenAlexW3135315131

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.