Volk Current Trends in Sphingolipidoses and Allied Disorders

Erscheinungsjahr 2013
ISBN: 978-1-4684-7735-1
Verlag: Springer US
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, Band 68, 612 Seiten, eBook

Reihe: Advances in Experimental Medicine and Biology

The present volume contains the scientific contributions to the Fifth International Symposium on "Current Trends in Sphingo lipidoses and Allied Disorders" under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, the Department of Pathology, Downstate Medical Center, State Uni versity of New York, Brooklyn, New York, and the National Tay-Sachs and Allied Diseases Association, Inc., New York. A review of the four previous Symposia shows the increase in scope of the scientific exploration in this rapidly expanding field. The first meeting, held in 1958, was devoted to the discussion al most entirely of Tay-Sachs disease. The majority of the work emanated from local laboratories. The participants at the present Symposium came from many other domestic and foreign research in stitutions. The scope of the papers presented at these meetings and the interest shown in the Symposium demonstrates the signifi cance attached by the scientific community to the problems of these hereditary diseases. The reasons for this are apparent, when one considers the contributions during recent years to our basic know ledge by lipid and enzyme chemistry, genetics, and neuropathology. Partly because of the hereditary nature of these diseases any new discovery in this field has general meaning and permits cautious generalization well beyond its clinical significance.

Zielgruppe

Research

Autoren/Hrsg.

Volk, Bruno

Inhaltsverzeichnis

Simple Ultra-Microtechniques for Genetic Complementation Analysis and Early Prenatal Diagnosis of Sphingolipidoses.- Storage and Excretion of Oligosaccharides and Glycopeptides in the Gangliosidoses.- Glycoprotein Catabolism in Brain Tissue in the Lysosomal Enzyme Deficiency Diseases.- Bruno Berra Component Forms of Acid Hydrolases in Subcellular Granules from Human Leucocytes.- Fetal Pathology and Ultrastructure of Neuropathic Gaucher’s Disease.- Recent Observations on Gaucher’s Disease.- Studies on the Pathogenesis of Krabbe’s Leukodystrophy: Cellular Reaction of the Brain to Exogenous Galactosylsphingosine, Monogalactosyl Diglyceride and Lactosylceramide.- Chemical Pathology of Krabbe Disease: The Occurrence of Psychosine and Other Neutral Sphingoglycolipids.- Glycolipid Metabolism in the Canine Form of Globoid Cell Leukodystrophy.- Fucosidosis: Clinical, Pathologic and Biochemical Studies of Five Patients.- Variability of Expressivity of ?-Fucosidase Deficiency.- Fucosidosis.- Alpha-L-Fucosidase in Normal and Deficient Individuals.- Studies in Metachromatic Leukodystrophy. XIII. Purification of Sulfatase A from Normal Human Liver.- p.Nitrocatechol Sulfate for Arylsulfatase Assay: Detection of Metachromatic Leukodystrophy Variants.- Arylsulfatases A and B in Metachromatic Leukodystrophy and Maroteaux-Lamy Syndrome: Studies with 4-Methylumbelliferyl Sulfate.- Iduronate Sulfatase Determination for the Diagnosis of the Hunter Syndrome and the Detection of the Carrier State.- The Enzymic Defects in Morquio and Maroteaux-Lamy Syndrome.- Mannosidosis: Studies of the ?-D-Mannosidase Isozymes in Health and Disease.- Mannosidosis: Storage Material, ?-Mannosidase Specificity and Diagnostic Methods.- Hexosaminidases: Multiple Component Enzymes.- Purification andPartial Characterization of ?-N-Acetylgalactosaminidase from Porcine Liver.- Identification of Tay-Sachs Genotypes by Hexosaminidase Analysis of Urine and Tear Samples.- Sphingomyelinases and the Genetic Defects in Niemann-Pick Disease.- Adrenoleukodystrophy: A Clinical Pathological and Biochemical Study.- Polyunsaturated Fatty Acid Lipidosis: A New Nosological Entity.- The Biochemical Defect in Farber’s Disease.- Ultrastructure and Peroxidase of Leucocytes in Five Patients with Juvenile Form of Ceroid Lipofuscinoses.- Ultrastructure and Biochemical Studies of Rat CNS and Viscera After Subcutaneous Injection of Chlorphentermine.- Chemical Models and Chemotherapy in the Sphingolipidoses.- Chemical Induction of Lysosomal Storage.- Glycolipids in Cultured Fetal Tay-Sachs Disease Cerebellar Cells.- The Correction, In Vitro, of Lysosomal Enzyme Deficiencies by Means of Immunoglobulin-Coated Liposomes.- Enzyme Replacement Therapy for the Sphingolipidoses.- High-Performance Liquid Chromatographic Analysis of Glycosphingolipids and Phospholipids.- Brain Glycoproteins and Recognition Functions: Recognins and Cancer.- Lipids and Slow Viruses: Comparison of Measles and SSPE Virions.- Conference Summary.- Contributors and Participants.