The mucopolysaccharidoses (a review).

Sickle Cell Anemia, a Molecular Disease

1949 • 2,216 citations

The Metabolic Basis of Inherited Diseases

1972 • 1,762 citations

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

1973 • 498 citations

A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes

1972 • 446 citations

Hurler and Hunter Syndromes: Mutual Correction of the Defect in Cultured Fibroblasts

1968 • 437 citations

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

1968 • 312 citations

A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

1974 • 281 citations

A Rare Disease in Two Brothers

1917 • 276 citations

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

1972 • 244 citations

THE GENETIC MUCOPOLYSACCHARIDOSES

1965 • 234 citations

The Defect in the Hunter Syndrome: Deficiency of Sulfoiduronate Sulfatase

1973 • 231 citations

Gargoylism – A mucopolysaccharidosis

1952 • 228 citations

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME

1957 • 189 citations

THE DEFECT IN HURLER AND HUNTER SYNDROMES, II. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATION

1969 • 174 citations

Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

1966 • 173 citations

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

1972 • 160 citations

CORRECTIVE FACTORS FOR INBORN ERRORS OF MUCOPOLYSACCHARIDE METABOLISM

1971 • 156 citations

Cleavage of macromolecular heparin by an enzyme from mouse mastocytoma.

1975 • 152 citations

The Sanfilippo A Corrective Factor

1972 • 150 citations

Structural Studies on Heparitin Sulfate of Normal and Hurler Tissues

1967 • 145 citations

Morquio's syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

1974 • 145 citations

Hurler's syndrome, an a-L-iduronidase deficiency

1972 • 135 citations

A Newly Recognized Forme Fruste of Hurler's Disease (Gargoylism)* *From the Departments of Ophthalmology, Dermatology, and Pediatrics, Hospital of the University of Pennsylvania, Children's Hospital of Philadelphia, and University of Pennsylvania Medical School.

1962 • 134 citations

A β-glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts

1973 • 129 citations

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

1973 • 123 citations

Excretion of Sulfated Mucopolysaccharides in Gargoylism. (Hurler's Syndrome)

1958 • 122 citations

[A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B].

1963 • 120 citations

ALLELISM, NON-ALLELISM, AND GENETIC COMPOUNDS AMONG THE MUCOPOLYSACCHARIDOSES

1972 • 118 citations

Identification of Iduronic Acid as the Major Sulfated Uronic Acid of Heparin

1971 • 117 citations

Studies in Metachromatic Leukodystrophy

1973 • 114 citations

The Hurler Corrective Factor

1971 • 111 citations

Lactosylceramide beta-galactosidase in human sphingolipidoses. Evidence for two genetically distinct enzymes.

1975 • 110 citations

[121] Corrective factors for inborn errors of mucopolysaccharide metabolism

1972 • 104 citations

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

1972 • 101 citations

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

1974 • 97 citations

L-iduronidase in cultured human fibroblasts and liver

1971 • 95 citations

Variation in the phenotypic expression of β-glucuronidase deficiency

1975 • 94 citations

Degradation of mucopolysaccharides by hepatic lysosomes

1966 • 89 citations

Maroteaux-lamy disease (mucopolysaccharidosis VI), subtype A: Deficiency of a N-acetylgalactosamine-4-sulfatase

1974 • 89 citations

Arylsulfatase B deficiency in maroteaux-lamy syndrome cultured fibroblasts

1974 • 86 citations

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

1973 • 86 citations

Hurler's Syndrome: Demonstration of an Inherited Disorder of Connective Tissue in Cell Culture

1965 • 85 citations

Scheie and Hurler Syndromes: Apparent Identity of the Biochemical Defect

1970 • 79 citations

The Systemic Mucopolysaccharidoses

1972 • 79 citations

The Systemic Mucopolysaccharidoses

1972 • 78 citations

Arylsulfatase B Deficiency in Maroteaux-Lamy Syndrome: Cellular Studies and Carrier Identification

1975 • 72 citations

Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria

1969 • 71 citations

Multiple Sulfatase Deficiencies in Cultured Skin Fibroblasts

1974 • 70 citations

Mucopolysaccharidosis VII: ?-Glucuronidase deficiency

1974 • 67 citations

Biochemical heterogeneity of the sanfilippo syndrome: Preliminary characterization of two deficient factors

1971 • 66 citations

GARGOYLISM (CHONDRO-OSTEO-DYSTROPHY, CORNEAL OPACITIES, HEPATOSPLENOMEGALY, AND MENTAL DEFICIENCY)

1936 • 66 citations

Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

1974 • 62 citations

Sulfated Mucopolysaccharides of Urine and Organs in Gargoylism (Hurler's Syndrome) II. Additional Studies.

1959 • 62 citations

Sandhoff Disease: Defective Glycosaminoglycan Catabolism in Cultured Fibroblasts and Its Correction by β‐N‐Acetylhexosaminidase

1974 • 61 citations

The prenatal diagnosis of hereditary disorders

1974 • 60 citations

Isolation and Identification of Keratosulphate in Urine of Patients Affected by Morquio-Ullrich Disease.

1962 • 57 citations

An assay for iduronate sulfatase (hunter corrective factor)

1974 • 55 citations

Absence of hyaluronidase in cultured human skin fibroblasts

1975 • 52 citations

The hyaluronidase of rat skin

1969 • 52 citations

α-L-iduronidase in lysosomal extracts

1972 • 50 citations

TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HÜRLER-PFAUNDLER'S DISEASE

1957 • 48 citations

Gargoylism: A Review of the Principal Features with a Report of Five Cases

1940 • 47 citations

Structure of Pig Skin Dermatan Sulfate

1971 • 41 citations

Structure of the “keratosulfate-like” material in liver from a patient with GM1-gangliosidosis (β-D-galactosidase deficiency)

1973 • 40 citations

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome

1975 • 39 citations

Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV).

1968 • 38 citations

Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis

1970 • 37 citations

Properties of galactosemic cells in culture

1960 • 36 citations

Urinary Excretion of Disulfated Disaccharides in Hunter Syndrome: Correction by Infusion of a Serum Fraction

1973 • 32 citations

The phenyl α- and β-L-idopyranosiduronic acids and some other aryl glycopyranosiduronic acids

1972 • 29 citations

Vitamin C-Induced Increase of Dermatan Sulfate in Cultured Hurler's Fibroblasts

1966 • 27 citations

[ULTRASTRUCTURE OF THE HEPATIC CELLS IN HURLER'S DISEASE (GARGOYLISM)].

1964 • 26 citations

The Distribution of Sulfated Uronic Acid and Hexosamine Residues in Heparin and Heparan Sulfate

1975 • 24 citations

Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form.

1972 • 23 citations

Mucopolysaccharidosis VI (Maroteaux-Lamy disease). Clinical and biochemical study of a mild variant case.

1974 • 17 citations

The pathology and chemistry of a case of gargoylism. Appendix. Chemical analysis of tissue polysaccharides.

1956 • 17 citations

Sphingolipids, Sphingolipidoses and Allied Disorders.

1973 • 13 citations

The Hunter Syndrome in a 46 XX Girl

1973 • 9 citations

Hunter Syndrome in Girl (Cont.)

1973 • 2 citations