Evidence map›Paper›PMID 41255673›Full record

ArticleWorld journal of clinical pediatrics2025

Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.

Anastasia O Vechkasova, Ekaterina Yu Zakharova, Natalia V Buchinskaya, Nato D Vashakmadze, Leyla S Namazova-Baranova, Dmitry O Ivanov, Sergei I Kutsev, Mikhail M Kostik

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Article in World journal of clinical pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

8 authors.

Anastasia O VechkasovaClinical Genetics, Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), Saint Petersburg 194044, Russia.
Ekaterina Yu ZakharovaMolecular and Genetic Diagnostics, Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow 115478, Moskva, Russia.
Natalia V BuchinskayaClinical Genetics, Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), Saint Petersburg 194044, Russia.
Nato D VashakmadzeInstitution of the Maternity and Childhood, Pirogov Russian National Research Medical University, Moscow 117513, Moskva, Russia.
Leyla S Namazova-BaranovaInstitution of the Maternity and Childhood, Pirogov Russian National Research Medical University, Moscow 117513, Moskva, Russia.
Dmitry O IvanovDepartment of Neonatology, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Russia.
Sergei I KutsevMolecular and Genetic Diagnostics, Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow 115478, Moskva, Russia.
Mikhail M KostikHospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg 194100, Russia. kost-mikhail@yandex.ru.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMucopolysaccharidosis type VI (MPS VI) is a chronic, progressive, inherited disease with multiorgan involvement and a restricted life expectancy.

aimTo investigate the epidemiological, clinical, and genetic characteristics of patients with mucopolysaccharidosis type 6 and their outcomes using the Russian Federation's national registry, as per the Russian registry, and compare them with previously published data.

methodsIn a retrospective cohort study, clinical, laboratory data, molecular genetic analysis results, and enzyme replacement therapy (ERT) data were extracted and analyzed from the Russian MPS VI registry for 53 patients, comprising 26 males (49.1%) and 27 females (50.9%).

resultsThe median age of first symptoms was 2 years, ranging from the first months of life to 20 years. A positive family history of MPS VI was reported in 19/53 (35.8%) patients, a negative family history in 24 (45.3%), and missing information in 10 (18.9%). The main features of the disease were hepatomegaly (

conclusionNo correlation was observed between the age of onset of the first symptoms, the severity of clinical manifestations, enzyme activity, or nucleotide variants in the

Indexed as

ARSBEnzyme replacement therapyGenotype-phenotype correlationMucopolysaccharidosis type VIRegisterRussian Federation

Identifiers

PMID41255673
PMCPMC12620840

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