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A single centre review of 24 Mucopolysaccharidosis Type III patients

✍ Scribed by Maha Saleh; Michelle Mecija; Joe Clarke; Julian Raiman


Book ID
116989229
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
57 KB
Volume
102
Category
Article
ISSN
1096-7192

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## Communicated by Elizabeth Neufeld Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excr