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

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

International journal of molecular sciences - 30 Nov 2020

Yuskiv Nataliya, Higaki Katsumi, Stockler-Ipsiroglu Sylvia

Abstract excerpt

Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in GALNS-related Morquio A disease. MBD may present as pure skeletal phenotype (pure MBD) or in combination with the neuronopathic manifestations seen in type 2 (juvenile) or type 3 (late onset) GM1 gangliosidosis (MBD plus). The main...

Read the complete abstract on PubMed

Topics

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

Share to beta-Galactosidase
Share to Biomarkers
Share to Cytokines

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

Share to Diagnosis, Differential

Share to Disease Susceptibility

Share to Gangliosidosis, GM1

Share to Mucopolysaccharidosis IV

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 33266180
DOI: 10.3390/ijms21239121
PMCID: PMC7729736

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.PMID 33266180Read ↗

Morquio B disease: From pathophysiology towards diagnosis.Semantic proximity Read ↗

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Semantic proximity Read ↗

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.Semantic proximity Read ↗

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.Semantic proximity Read ↗

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.Semantic proximity Read ↗

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.Semantic proximity Read ↗

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

Clinical and molecular analysis of a Japanese boy with Morquio B disease.Semantic proximity Read ↗

Alpha-mannosidosis in a 3.5-year-old girl: A case reportSemantic proximity Read ↗

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 geneSemantic proximity Read ↗

Alpha-mannosidosis.Semantic proximity Read ↗

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.Semantic proximity Read ↗

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