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Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

✍ Scribed by Reuben Matalon; Bradley Arbogast; Albert Dorfman


Book ID
119405682
Publisher
Elsevier Science
Year
1974
Tongue
English
Weight
367 KB
Volume
61
Category
Article
ISSN
0006-291X

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An N-acetylgalactosamine-4-sulfatase mut
✍ Tom Litjens; C. Phillip Morris; Evelyn F. Robertson; Christoph Peters; Kurt von πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 496 KB

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomally inherited lysosomal storage disorder caused by a deficiency of N~acetylgalactosamine-4-sulfatase (EC 3.1.6.1; 4.sulfatase). In order to determine the gene defect in a clinically severe MPS VI patient, polymerase chain