Evidence map›Paper›PMID 34948256›Full record

ReviewInternational journal of molecular sciences2021

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.

Francesca D'Avanzo, Alessandra Zanetti, Concetta De Filippis, Rosella Tomanin

Open access · goldAbstract readReview
In one paragraph

Review 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 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
3.5field-weighted citation impact, top 6% 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

31 citing papers in PubMed, 47 citations in OpenAlex.

  1. Article
  2. Advances in Therapies for Mucopolysaccharidoses.Current issues in molecular biology · 2026
    Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Review
  10. Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
  11. The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Detection of inversion with breakpoints inFrontiers in genetics · 2024
    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

4 authors at 1 institution in 1 country.

Francesca D'AvanzoLaboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.ORCID 0000-0002-2790-6481
Alessandra ZanettiLaboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.ORCID 0000-0002-4120-6262
Concetta De FilippisLaboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.ORCID 0000-0002-9001-1007
Rosella TomaninLaboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.ORCID 0000-0002-3346-9900
University of Padua · IT

Funding

Fondazione Cassa di Risparmio di Padova e Rovigo 17/06_1FCR
6 · The paper itself

Abstract

Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. The disease is due to pathogenic variants of the

Indexed as

Chondroitin SulfatesEnzyme Replacement TherapyGlycosaminoglycansHumansMucopolysaccharidosis VIN-Acetylgalactosamine-4-SulfataseARSB protein, humanChondroitin SulfatesGlycosaminoglycansN-Acetylgalactosamine-4-SulfataseARSBASBchondroitin 4-sulfatedermatan sulfateenzyme replacement therapylysosomal storage disorderMaroteaux–Lamy syndromemucopolysaccharidosis type VIN-acetylgalactosamine 4-sulfatase

Identifiers

PMID34948256
PMCPMC8707598
OpenAlexW4200028698

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.