The clinical spectrum of α‐L‐iduronidase deficiency

The Metabolic Basis of Inherited Disease

1983 • 757 citations

Heritable Disorders of Connective Tissue.

1973 • 518 citations

ACUTE ANTERIOR UVEITIS AND HL-A 27

1974 • 366 citations

Recognition and receptor-mediated uptake of a lysosomal enzyme, α-l-iduronidase, by cultured human fibroblasts

1977 • 354 citations

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

1974 • 281 citations

A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes

1979 • 134 citations

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

1972 • 118 citations

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

1980 • 107 citations

Maturation of alpha-L-iduronidase in cultured human fibroblasts.

1981 • 97 citations

ANTRAL-GASTRIN-CELL HYPERPLASIA IN PEPTIC ULCER DISEASE

1974 • 96 citations

Assay and purification of a solubilized membrane receptor that binds the lysosomal enzyme α-l-iduronidase

1982 • 79 citations

The Systemic Mucopolysaccharidoses

1972 • 79 citations

Biochemical Discrimination of Hurler and Scheie Syndromes

1979 • 58 citations

The Iduronidase-Deficient Mucopolysaccharidoses: Clinical and Roentgenographic Features

1976 • 46 citations

Receptor-mediated uptake of lysosomal enzymes.

1978 • 41 citations

α‐L‐iduronidase deficiency and possible Hurler‐Scheie genetic compound

1976 • 31 citations

Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers

1974 • 28 citations

CHONDROITIN-4-SULPHATE MUCOPOLYSACCHARIDOSIS—A NEW VARIANT OF HURLER'S SYNDROME

1969 • 28 citations

The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism

1976 • 27 citations

Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms.

1984 • 27 citations

Hurler/Scheie Phenotype

1978 • 15 citations

Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: Support for the hypothesis of allelic mutants

1980 • 14 citations

Properties of ?-l-iduronidase in cultured skin fibroblasts from ?-l-iduronidase-deficient patients

1984 • 14 citations

CHONDROITINSULPHATURIA WITH $alpha;-L-IDURONIDASE DEFICIENCY

1974 • 14 citations

A Form of Mucopolysaccharidosis with Visceral Storage and Excessive Urinary Excretion of Chondroitin Sulphate

1972 • 13 citations

Chondroitin-4-sulfate mucopolysaccharidosis.

1971 • 11 citations

Hurler, Scheie, and Hurler‐Scheie ‘compound’: Residual activity of α‐<scp>l</scp>‐iduronidase toward natural substrates suggesting allelic mutations

1983 • 10 citations

CHONDROITINSULPHATURIA WITH α-L-IDURONIDASE DEFICIENCY

1974 • 10 citations

PHENOTYPIC VARIATION IN ALPHA-L-IDURONIDASE DEFICIENCY

1975 • 10 citations

GLUCOSE-6-PHOSPHATASE IN HUMAN PLACENTA: A NEW METHOD FOR THE STUDY OF GLYCOGEN STORAGE DISEASE TYPE I. POSSIBLE IDENTIFICATION OF A HETEROZYGOTE

1977 • 10 citations

Recognition of lysosomal enzymes

1977 • 9 citations

A HITHERTO UNEXPECTED COMPLICATION IN THE GENETICS OF HUMAN RECESSIVES

1938 • 8 citations

Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.

1977 • 7 citations

Hurler-Scheie Phenotype with Parental Consanguinity

1983 • 6 citations

A New Phenotypic Variant of a-L-Iduronidase Deficiency1

2015 • 5 citations

Late onset form of mucopolysaccharidosis type I: Clinical aspect and biochemical characterization of residual α‐<scp>l</scp>‐iduronidase activity

1981 • 4 citations

IN-VITRO CONFIRMATION OF GENETIC COMPOUND OF THE HURLER AND SCHEIE SYNDROMES

1974 • 4 citations

Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.

1976 • 4 citations