Mucopolysaccharidosis III A (Sanfilippo A disease): Deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes
β Scribed by Hans Kresse
- Book ID
- 118854020
- Publisher
- Elsevier Science
- Year
- 1973
- Tongue
- English
- Weight
- 351 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0006-291X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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
## 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