John J. Hopwood

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

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

Tom Litjens, Elizabeth Baker, Kerri Beckmann et al. · Human Genetics · 1989 · 66 citations

Chromatin, Genetic Disorder, Genetics +4

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 et al. · Molecular Genetics and Metabolism · 2001 · 27 citations

Translational Medicine, Autoimmune Disease, Sanfilippo Phenotype Severity +6

Organ-Specific Over-sulfation of Glycosaminoglycans and Altered Extracellular Matrix in a Mouse Model of Cystic Fibrosis

Warren G. Hill, G. S. Harper, Tina Rozaklis et al. · Biochemical and Molecular Medicine · 1997 · 26 citations

Fibrosis, Glycosylation, Human Tissue +10

Hunter syndrome: Gene deletions and rearrangements

Roseline Froissart, Jean-Luc Blond, Irène Maire et al. · Human Mutation · 1993 · 26 citations

Mendelian Disorder, Genetic Disorder, Genetics +4