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Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

✍ Scribed by Jurecka, Agnieszka; Zakharova, Ekaterina; Malinova, Vera; Voskoboeva, Elena; Tylki-Szymańska, Anna

Book ID
125351531
Publisher
Springer
Year
2013
Tongue
English
Weight
369 KB
Volume
33
Category
Article
ISSN
0770-3198

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## Communicated by William Sly Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans