Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease

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1983 • 2,885 citations

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1975 • 511 citations

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1982 • 419 citations

Two species of lysosomal organelles in cultured human fibroblasts

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1982 • 355 citations

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1979 • 275 citations

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1976 • 263 citations

Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla Disease

1986 • 146 citations

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1979 • 139 citations

Defect in Vitamin B ₁₂ Release from Lysosomes: Newly Described Inborn Error of Vitamin B ₁₂ Metabolism

1985 • 137 citations

Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings

1982 • 85 citations

Sialic Acid Storage Disease with Sialuria: Clinical and Biochemical Features in the Severe Infantile Type

1983 • 84 citations

Generalized N‐Acetylneuraminic Acid Storage Disease: Quantitation and Identification of the Monosaccharide Accumulating in Brain and Other Tissues

1982 • 55 citations

Free N‐Acetylneuraminic Acid in Tissues in Salla Disease and the Enzymes Involved in Its Metabolism

1983 • 43 citations

Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane

1986 • 35 citations

Studies of lysosomal sialic acid metabolism: Retention of sialic acid by Salla disease lysosomes

1986 • 33 citations

N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease

1983 • 33 citations

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1985 • 32 citations

Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.

1986 • 32 citations

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1986 • 29 citations

Familial Lysosomal Storage Disease with Generalized Vacuolization and Sialic Aciduria. Sporadic Salla Disease

1985 • 24 citations

N-Acetylneuraminic acid accumulation in a buoyant lysosomal fraction of cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease

1986 • 21 citations

Specificity studies on the oligosaccharide neuraminidase of human fibroblasts

1984 • 21 citations

Infantile Sialic Acid Storage Disease: The Fate of Biosynthetically Labeled N-Acetyl-(3H)-Neuraminic Acid in Cultured Human Fibroblasts

1986 • 10 citations