Concepedia

Prediction of Sanfilippo Phenotype Severity from Immunoquantification of Heparan-N-sulfamidase in Cultured Fibroblasts from Mucopolysaccharidosis Type IIIA Patients

Kelly J. Perkins, Vivienne Muller, Birgit Weber, John J. Hopwood

Molecular Genetics and Metabolism · 2001 · 27 citations · 12 references

DOI

Concepts

References

12

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Hamish S. Scott, Lianne C. Blanch, Xiao-Hui Guo et al. · Nature Genetics · 1995 · 151 citations

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Mucopolysaccharidosis III A (Sanfilippo A disease): Deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes

Hans Kresse · Biochemical and Biophysical Research Communications · 1973 · 124 citations

, , +10

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

Birgit Weber · Human Molecular Genetics · 1997 · 86 citations · Full text

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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

Paola Di Natale, Nicola Balzano, Sabrina Esposito et al. · Human Mutation · 1998 · 77 citations

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Susanna Bunge, Hüseyin İnce, Cordula Steglich et al. · Human Mutation · 1997 · 71 citations