Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

24 Mar 2022

Abstract excerpt

BACKGROUND: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium signaling and nucleotide metabolism
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35331284
DOI: 10.1186/s13023-022-02285-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centersPMID 35331284Read ↗

The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.Semantic proximity Read ↗

Epidemiology of Mucopolysaccharidoses UpdateSemantic proximity Read ↗

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseSemantic proximity Read ↗

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatmentSemantic proximity Read ↗

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceSemantic proximity Read ↗

A Review Of The Clinical Outcomes In Idursulfase-Treated And Untreated Filipino Patients With Mucopolysaccharidosis Type II: Data From The Local Lysosomal Storage Disease RegistrySemantic proximity Read ↗

Phase I and II clinical trials for the mucopolysaccharidosesSemantic proximity Read ↗

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and BeyondSemantic proximity Read ↗

Mucopolysaccharidosis VII in Brazil: Natural History and Clinical FindingsSemantic proximity Read ↗

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey studySemantic proximity Read ↗

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidanceSemantic proximity Read ↗

Mucopolysaccharidosis Type ISemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.