The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Functions of Lysosomes

1966 • 2,942 citations

Heritable Disorders of Connective Tissue

1960 • 1,560 citations

The Metabolic Basis of Inherited Disease.

1972 • 1,407 citations

Lysosomes and storage diseases

1973 • 745 citations

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

1973 • 498 citations

Heritable disorders of connective tissue

1955 • 445 citations

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

1968 • 437 citations

Progress in Medical Genetics.

1983 • 347 citations

Formation of Three Types of Disulfated Disaccharides from Chondroitin Sulfates by Chondroitinase Digestion

1968 • 313 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

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

Gargoylism – A mucopolysaccharidosis

1952 • 228 citations

The amino sugars

1965 • 208 citations

Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

1973 • 192 citations

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME

1957 • 189 citations

HURLER'S SYNDROME

1966 • 180 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

Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion

1971 • 161 citations

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

1972 • 160 citations

Hepatic uptake of proteins coupled to fetuin glycopeptide

1971 • 157 citations

CORRECTIVE FACTORS FOR INBORN ERRORS OF MUCOPOLYSACCHARIDE METABOLISM

1971 • 156 citations

The Sanfilippo A Corrective Factor

1972 • 150 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 β-glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts

1973 • 129 citations

Intrauterine Diagnosis of the Hurler and Hunter Syndromes

1969 • 126 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

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

1972 • 118 citations

Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

1973 • 118 citations

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

1971 • 117 citations

Structure of Dermatan Sulfate

1970 • 115 citations

The Hurler Corrective Factor

1971 • 111 citations

The Structures of Oligosaccharides Accumulating in the Liver of G1-Gangliosidosis, Type I

1974 • 107 citations

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture

1971 • 107 citations

Uronic acid composition of heparins and heparan sulfates

1973 • 104 citations

Cerebral G _M1 -Gangliosidosis: Chemical Pathology of Visceral Organs

1968 • 102 citations

Effect of Leukocyte Transfusion in a Child with Type II Mucopolysaccharidosis

1971 • 101 citations

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

1972 • 101 citations

Structure of Dermatan Sulfate

1967 • 100 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

α-l-Iduronidase activity in cultured skin fibroblasts and amniotic fluid cells

1973 • 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

The structure and metabolism of mucopolysaccharides (glycosaminoglycans) and the problem of the mucopolysaccharidoses

1969 • 82 citations

Scheie and Hurler Syndromes: Apparent Identity of the Biochemical Defect

1970 • 79 citations

The Systemic Mucopolysaccharidoses

1972 • 79 citations

The Prenatal Diagnosis of Hereditary Disorders

1974 • 78 citations

HURLER'S SYNDROME

1966 • 78 citations

The disaccharide repeating-units of heparan sulfate

1974 • 78 citations

Structure of Dermatan Sulfate

1968 • 75 citations

The Structure of Keratosulfate of Bovine Cornea¹

1961 • 73 citations

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

1975 • 72 citations

Generalized Gangliosidosis: Impaired Cleavage of Galactose from a Mucopolysaccharide and a Glycoprotein

1969 • 70 citations

A new dermatan polysulfate, chondroitin sulfate H, from hagfish notochord

1971 • 69 citations

Mucopolysaccharidosis VII: ?-Glucuronidase deficiency

1974 • 67 citations

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

1971 • 66 citations

Histochemical and electron microscopic study in a case of Hurler's disease.

1962 • 62 citations

Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

1974 • 62 citations

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

1974 • 61 citations

The Hunter Corrective Factor

1972 • 61 citations

The prenatal diagnosis of hereditary disorders

1974 • 60 citations

Lysosomal enzyme variations in cultured normal skin fibroblasts

1972 • 57 citations

Mucopolysaccharidosis VI (Maroteaux-Lamy's disease).

1970 • 54 citations

Absence of hyaluronidase in cultured human skin fibroblasts

1975 • 52 citations

X-ray diffraction patterns from chondroitin 4-sulphate, dermatan sulphate and heparan sulphate (Short Communication)

1973 • 49 citations

The biochemical basis for mucopolysaccharidoses and mucolipidoses.

1974 • 48 citations

Structure of Pig Skin Dermatan Suflate

1971 • 48 citations

The Linkage of Dermatan Sulfate to Protein

1971 • 46 citations

A distinct biochemical deficit in the maroteaux-lamy syndrome (mucopolysaccharidosis VI)

1972 • 44 citations

On the distribution of sulfate in heparin

1969 • 43 citations

Isolation and identification of the glycosaminoglycans from fracture callus

1965 • 43 citations

Structure of Pig Skin Dermatan Sulfate

1971 • 41 citations

Biology of Brain Dysfunction

1973 • 40 citations

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

1973 • 40 citations

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

1970 • 37 citations

Progress in Medical Genetics.

1974 • 36 citations

Enzymatic studies of oversulfated chondroitin sulfate in human aortic tissue

1969 • 36 citations

Sanfilippo B disease: Serum assays for detection of homozygous and heterozygous individuals in three families

1973 • 34 citations

Sanfilippo A disease in the fetus

1974 • 34 citations

The use of α-l-iduronidase activity determinations in leucocytes for the detection of hurler and scheie syndromes

1975 • 31 citations

Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus

1973 • 30 citations

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

1972 • 29 citations

Mucopolysaccharidosis type 3. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome.

1966 • 28 citations

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

1964 • 26 citations

Demonstration of the Heterozygous State in Hunter's Syndrome

1974 • 26 citations

Sulfate de dermatane et sulfate d'heparitine du foie de boeuf

1972 • 19 citations

Gas chromatographic assay of iduronic and glucuronic acids as aldonic acid butaneboronates

1974 • 19 citations

Reliability of the Booth-Nadler Technique for the Detection of Hunter Heterozygotes

1975 • 15 citations

CHONDROITINSULPHATURIA WITH $alpha;-L-IDURONIDASE DEFICIENCY

1974 • 14 citations

CHONDROITINSULPHATURIA WITH α-L-IDURONIDASE DEFICIENCY

1974 • 10 citations

PHENOTYPIC VARIATION IN ALPHA-L-IDURONIDASE DEFICIENCY

1975 • 10 citations

Genetic Disorders of Mucopolysaccharide Metabolism

1973 • 5 citations

SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

1974 • 4 citations