Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia

The Thiobarbituric Acid Assay of Sialic Acids

1959 • 6,482 citations

[16] Preparation of buffers for use in enzyme studies

1955 • 1,009 citations

Preparation of Buffers for Use in Enzyme Studies

1955 • 899 citations

The assay of arylsulphatases A and B in human urine

1959 • 624 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

Digestive Activity of Lysosomes

1968 • 219 citations

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

1972 • 160 citations

Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts

1977 • 158 citations

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

1975 • 136 citations

A CASE OF JUVENILE LIPIDOSIS

1963 • 113 citations

Glycosidases in the Nervous System

1968 • 111 citations

?-Galactosidase deficiency in juvenile and adult patients

1977 • 104 citations

Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease

1977 • 101 citations

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

1976 • 101 citations

Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

1971 • 97 citations

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

1971 • 93 citations

Molecular genetics of GM1 beta-galactosidase.

1975 • 77 citations

Molecular genetics of GM1β-galactosidase

1975 • 72 citations

A New Type of Mucolipidosis with β-Galactosidase Deficiency and Glycopeptiduria

1972 • 71 citations

Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells

1973 • 69 citations

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: “I cell disease” and two new types of mucolipidosis

1976 • 65 citations

A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease.

1973 • 54 citations

Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

1974 • 53 citations

Mannosidosis: Deficiency of a specific α-mannosidase component in cultured fibroblasts

1975 • 46 citations

Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells

1973 • 45 citations

Electrophysiological Studies in Two Patients with Cherry Red Spot‐Myoclonus Syndrome

1977 • 45 citations

Applications of a Synthetic Neuraminidase Substrate

1973 • 44 citations

Deficit in neuraminidase associated with mucolipidosis II (I-cell disease).

1976 • 43 citations

Localized ß-Galactosidase Deficiency

1974 • 42 citations

Analysis of in mucolipidosis II (I-cell disease)

1973 • 39 citations

Macular Cherry-Red Spots and β-Galactosidase Deficiency in an Adult

1977 • 39 citations

Macular cherry-red spot, corneal clouding, and -galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease

1971 • 29 citations

Ocular Lesions Related to Disturbances in Fat Metabolism*

1958 • 29 citations

CLINICAL, ELECTROENCEPHALOGRAPHICAL AND NEUROPHARMACOLOGICAL STUDIES IN SYNDROMES OF PROGRESSIVE MYOCLONUS EPILEPSY

1970 • 24 citations

Detection of the carrier state of Hurler's syndrome by assay of α-l-iduronidase in leukocytes

1976 • 20 citations

Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl.

1974 • 20 citations

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

1966 • 20 citations

A CASE OF AMAUROTIC FAMILY IDIOCY WITH LIPID STORAGE DISEASE OF BONE

1957 • 14 citations

Cherry red spots and progressive myoclonus without dermentia: a distinct syndrome with neuronal storage.

1975 • 12 citations

[An autopsy case of a late form of familial amaurotic idiocy in comparison to the clinical and pathological findings on the two siblings with the same disease].

1967 • 12 citations

[Case of amaurosis idiotica familiaris].

1967 • 4 citations

[Familial juvenile neuronal storage disease. Cherry red spots and dyssynergia cerebellaris myoclonica without dementia type (author's transl)].

1976 • 3 citations