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Article

Morquio B disease: From pathophysiology towards diagnosis.

Molecular genetics and metabolism - 1 Mar 2021

Caciotti Anna, Cellai Lucrezia, Tonin Rodolfo, Mei Davide, Procopio Elena, Di Rocco Maja, Andaloro Antonio, Antuzzi Daniela, Rampazzo Angelica, Rigoldi Miriam, Forni Giulia, la Marca Giancarlo, Guerrini Renzo, Morrone Amelia

Abstract excerpt

Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulation, predominantly in the cartilage. Morquio B patients have normal neurological development, setting them apart from those with the more severe GM1 gangliosidosis....

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

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Source

Identifiers

PMID: 33558080
DOI: 10.1016/j.ymgme.2021.01.008

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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.

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