Impaired proteolytic processing of lysosomal N-acetyl-β-Hexosaminidase in cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease
- 1 April 1988
- journal article
- research article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 152 (1), 83-92
- https://doi.org/10.1016/s0006-291x(88)80683-1
Abstract
No abstract availableThis publication has 18 references indexed in Scilit:
- N-Acetylneuraminic acid accumulation in a buoyant lysosomal fraction of cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage diseaseBiochemical and Biophysical Research Communications, 1986
- Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla DiseaseScience, 1986
- Studies of lysosomal sialic acid metabolism: Retention of sialic acid by Salla disease lysosomesBiochemical and Biophysical Research Communications, 1986
- Infantile type of sialic acid storage disease with sialuriaClinical Genetics, 1986
- 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.JCI Insight, 1986
- β‐Mannosidosis: Prenatal biochemical and morphological characteristicsJournal of Inherited Metabolic Disease, 1983
- N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage diseaseBiochimica et Biophysica Acta (BBA) - General Subjects, 1983
- Free N‐Acetylneuraminic Acid in Tissues in Salla Disease and the Enzymes Involved in Its MetabolismEuropean Journal of Biochemistry, 1983
- Generalized N‐Acetylneuraminic Acid Storage Disease: Quantitation and Identification of the Monosaccharide Accumulating in Brain and Other TissuesJournal of Neurochemistry, 1982
- Maturation of the head of bacteriophage T4Journal of Molecular Biology, 1973