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Article

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.

Acta paediatrica (Oslo, Norway : 1992) - 1 Apr 2009

Piotrowska Ewa, Jakóbkiewicz-Banecka Joanna, Tylki-Szymańska Anna, Czartoryska Barbara, Wegrzyn Alicja, Wegrzyn Grzegorz

Abstract excerpt

AIM: To develop a method for prediction of severity and clinical course of mucopolysaccharidoses (MPS), a group of inherited metabolic diseases. METHODS: Various biochemical and clinical parameters (including estimation of the level of clinical severity, presence of specific mutations, residual enzyme activity, urinary glycosaminoglycan (GAG) excretion, storage of GAG in fibroblasts and efficiency of GAG...

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PMID: 19046346
DOI: 10.1111/j.1651-2227.2008.01153.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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