Title | The Gangliosidoses [electronic resource] / edited by Bruno W. Volk, Larry Schneck |
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Imprint | Boston, MA : Springer US, 1975 |
Connect to | http://dx.doi.org/10.1007/978-1-4615-8726-2 |
Descript | XVIII, 278 p. online resource |
1 Historical Review -- 2 Biochemical and Clinical Aspects -- Chemical Analysis -- Distribution and Development Patterns -- Biosynthesis and Degradation -- Biological Function -- Clinical Aspects -- Storage Compounds -- Enzyme Defects -- References -- 3 Enzymes -- Tay-Sachs Disease [GM2 (B)] -- Sandhoffโs Disease [GM2 (0)] -- The Relationship between Glycosphingolipid Accumulation in Tay-Sachs Disease Variants and Their Hexosaminidase Activity Patterns -- Detection of Tay-Sachs and Sandhoffโs Disease Homozygotes and Heterozygotes -- Pre- and Postnatal Detection of Tay-Sachs Disease -- Bernheimer-Seitelberger Disease [GM2 (A,B)] -- GM1-Gangliosidoses -- Summary and Conclusions -- References -- 4 Pathology -- GM2-Gangliosidoses -- Bernheimer-Seitelberger Disease (AB) -- GM1-Gangliosidoses -- GM3-Gangliosidosis -- References -- 5 Epidemiology -- Mode of Inheritance -- Gene and Carrier Frequencies -- Ethnologic Characteristics -- Demography of Jewish TSD Ancestors -- Evidence for Heterozygote Advantage -- References -- 6 Cell Culture Studies -- The Biology of Human Cells -- Amniocentesis and Amniotic Cell Culture -- Other Cells from Antenates and Neonates -- Enzymatic Defects -- Histochemistry and Morphology -- Gangliosides in Cultured Cells -- Culture of Neural Tissue -- The TSD Fibroblast as an Experimental Model -- Conclusion and Prospectus -- References -- 7 Spontaneous Gangliosidoses in Animals -- GM2-Gangliosidosis -- GM1-Gangliosidosis -- GM3-Gangliosidosis -- Conclusion -- References -- Appendix A Methodology: Sphingolipid Analysis -- Linda M. Hoffman, Larry Schneck -- Extraction of the Sample -- Separation of Gangliosides and Other Lipids -- Further Purification of the Ganglioside Fractions by Alkaline Methanolysis -- Thin-Layer Chromatography of Gangliosides -- Silicic Acid Column Chromatography -- Further Purification of the Glycolipid Fraction -- Thin-Layer Chromatography of Hexosylceramides -- Thin-Layer Chromatography of the Phospholipid Fraction Obtained from Silicic Acid Chromatography -- Further Characterization of Glycosphingolipids by Gas-Liquid Chromatography -- Methanolysis Conditions -- GLC of Fatty Acid Methyl Esters -- Preparation of Methyl Glycosides for GLC -- GLC of the Trimethylsilyl Derivatives of Methyl Glycosides -- References -- Appendix B Methodology: Enzyme Chemistry -- Guta Perle, Abraham Saifer -- Methods for the Pre- and Postnatal Detection of TSD Heterozygotes (Carriers) and Homozygotes (Patients) by Means of Hexosaminidase Analysis of Their Biological Fluids and Tissues -- Hex A Analysis of Biological Fluids with the Heat-Fractionation Method for the Detection of TSD Heterozygotes and Homozygotes -- Leukocyte, Amniotic Fluid, and Amniotic Cell Hex A Analysis by Acrylamide Gel Electrophoresis for the Detection of TSD Heterozygotes and Homozygotes -- References -- Appendix C Methodology: Histochemistry -- Masazumi Adachi, Bruno W. Volk -- Lipids -- Carbohydrates -- Proteins -- References -- Appendix D Methodology: Electron Microscopy -- Masazumi Adach, Bruno W. Volk -- Tissues -- Uncultured Cells from Amniotic Fluid -- Cultured Cells from Amniotic Fluid -- References -- Appendix E Methodology: Cell Culture -- Daniel Amsterdam, Steven E. Brooks -- Culture of Amniotic Fluid -- Primary Explant Technique -- Preservation of Cells for Long-Term Storage in Liquid Nitrogen -- Enumeration of Viable Cells -- Roller Culture for Mass Growth of Diploid Cells -- Reference -- Conclusions