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Article

Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease.

Molecular genetics and metabolism - 1 Jan 2003

Okumiya Toshika, Sakuraba Hitoshi, Kase Ryoichi, Sugiura Tetsuro

Abstract excerpt

G(M1)-gangliosidosis and Morquio B disease are distinct in clinical and biochemical features, but both disorders are caused by genetic defects of the same enzyme, acid beta-galactosidase (beta-Gal). We analyzed the kinetic properties of mutant beta-Gals from patients with G(M1)-gangliosidosis and Morquio B disease to examine the clinical and biochemical differences between both disorders. Five skin fibroblast...

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Identifiers

PMID: 12559848
DOI: 10.1016/s1096-7192(02)00199-3

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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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