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

Diagnosis of Mucopolysaccharidoses

22 Mar 2020

Abstract excerpt

The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis. Enzyme assays are usually performed in blood, with some samples (as...

Read the complete abstract on PubMed

Topics

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

Share to Carbohydrate Chemistry and Synthesis
Share to Glycogen Storage Diseases and Myoclonus
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32235807
DOI: 10.3390/diagnostics10030172

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosis of MucopolysaccharidosesPMID 32235807Read ↗

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

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.Semantic proximity Read ↗

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.Semantic proximity Read ↗

Epidemiology of Mucopolysaccharidoses UpdateSemantic proximity Read ↗

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

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter studySemantic proximity Read ↗

The diagnosis and management of mucopolysaccharidosis type IISemantic proximity Read ↗

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory DiagnosisSemantic proximity Read ↗

Mucopolysacccharidoses: from understanding to treatment, a century of discoveriesSemantic proximity Read ↗

[Mucopolysaccharidoses].Semantic proximity Read ↗

Clinical presentation and diagnosis of mucopolysaccharidosesSemantic proximity Read ↗

Mucopolysaccharidosis III: Molecular basis and treatment.Semantic proximity Read ↗

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