Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

The assay of arylsulphatases A and B in human urine

1959 • 624 citations

Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

1973 • 498 citations

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.

1968 • 312 citations

The Defect in the Hurler and Scheie Syndromes: Deficiency of α-L-Iduronidase

1972 • 244 citations

The Defect in the Hunter Syndrome: Deficiency of Sulfoiduronate Sulfatase

1973 • 231 citations

Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B Patients

1972 • 160 citations

Purification of Keratan Sulfate-endogalactosidase and its action on keratan sulfates of different origin.

1975 • 153 citations

Cleavage of macromolecular heparin by an enzyme from mouse mastocytoma.

1975 • 152 citations

The Sanfilippo A Corrective Factor

1972 • 150 citations

A β-glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts

1973 • 129 citations

Metabolism of sulfated glycosaminoglycans in cultured endothelial cells and smooth muscle cells from bovine aorta

1978 • 128 citations

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

1978 • 125 citations

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

1973 • 123 citations

Human α‐N‐Acetylglucosaminidase

1977 • 107 citations

The Sanfilippo B corrective factor: A N-acetyl-α-D-glucosaminidase

1972 • 101 citations

A heparan sulfate-degrading endoglycosidase from rat liver tissue

1975 • 99 citations

L-iduronidase in cultured human fibroblasts and liver

1971 • 95 citations

Hunter's syndrome: A deficiency of L-idurono-sulfate sulfatase

1973 • 86 citations

Influence of colchicine on the synthesis and secretion of proteoglycans and collagen by fetal guinea pig chondrocytes

1976 • 84 citations

Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses

1978 • 68 citations

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

1980 • 63 citations

Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

1974 • 62 citations

Demonstration of a platelet enzyme, degrading heparan sulphate

1976 • 57 citations

Multiple Deficiency of Mucopolysaccharide Sulfatases in Mucosulfatidosis

1979 • 55 citations

N-Acetylglucosamine-6-sulfate sulfatase from human urine.

1979 • 51 citations

Evidence for degradation of heparan sulfate by endoglycosidases: Glucosamine and hexuronic acid are reducing terminals of intracellular heparan sulfate from human skin fibroblasts

1976 • 51 citations

A New Biochemical Subtype of the Sanfilippo Syndrome: Characterization of the Storage Material in Cultured Fibroblasts of Sanfilippo C Patients

1978 • 24 citations

N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New Mucopolysaccharidosis

1978 • 20 citations

N-acetylgalactosamine 4,6-bissulfate in rat urine I. Isolation, identification and chemical synthesis

1976 • 20 citations

Affinity Chromatography of Glycosidases

1977 • 14 citations