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Radiolabelled oligosaccharides as substrates for the estimation of sulfamidase and the detection of the Sanfilippo Type A syndrome

✍ Scribed by John J. Hopwood; Helen Elliott


Book ID
115823544
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
994 KB
Volume
112
Category
Article
ISSN
0009-8981

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## Communicated by JΓΌrgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42