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[Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis].

Klinische Monatsblatter fur Augenheilkunde - 1 Aug 2000

Gösele S, Dithmar S, Holz F G, Völcker H E

Abstract excerpt

BACKGROUND: The Morquio syndrome is a rare autosomal-recessive mucopolysaccharidosis. The Morquio syndrome is characterized by a reduced activity of N-acetylgalactosamine-6-sulfate-sulfatase (type A), or beta-galactosidase (type B). This deficiency leads to a lysosomal storage disease with accumulation of keratan sulfate und chondroitin-6-sulfate in connective tissue, skeletal system und teeth. Consequently,...

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Identifiers

PMID: 11022666
DOI: 10.1055/s-2000-10394

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

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