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Sphingolipids, Sphingolipidoses and Allied Disorders

Sphingolipids, Sphingolipidoses and Allied Disorders

          
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About the Book

This text contains the scientific contributions to the Fourth International Symposium on Sphingolipids, Sphingo- lipidoses and Allied Disorders held at the Kingsbrook Jewish Medical Center on October 25-27, 1971. These meetings were conducted under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and the National Tay-Sachs and Allied Diseases Association, Inc. Four symposia, held in 1958, 1961, 1965 and 1971 were designed to gather the most relevant and innovative of the laboratory and field studies concerned with these hereditary disorders. The texts generated by these periodic meetings have mirrored the increasing absorption of the scientific community in the problems of sphingolipid metabolism. The first meeting in 1958 consisted of but twelve pre- sentations, the majority emanating from local laboratories. The current sessions contain 48 scientific presentations by scientists from nine countries and demonstrate the increas- ingly diversified techniques and approaches employed in the study of these diseases. Many of the authors, in exploring data on the mucopolysaccharidoses and leucodystrophies, as well as the sphingolipidoses, have given recognition to those biochemical areas held in common by these otherwise diverse disease processes. The problems of prevention and therapy of these diseases have been considered by some of the contributors. Laboratory screening procedures designed to detect carriers of the va- rious lipidoses are now available and the experiences of some laboratories in this area are summarized within this volume. The prospective identification of heterozygotes may indeed become a powerful adjunct in genetic counseling.

Table of Contents:
Fine Structure of Early Tay-Sachs Disease.- Biopsy Diagnosis of Lipidoses: Background Considerations, General Concepts and Practical Aspects.- Lysosomal Diseases and Fibroblast Cultures: Biochemical and Electron Microscopic Observations.- The Morphogenesis and Biochemical Characteristics of Ceroid Isolated from Cases of Neuronal Ceroid-Lipofuscinosis.- Effect of Conditions of Extraction on the Extractability of Brain Gangliosides.- Gangliosides of CSF and Plasma: Their Relation to the Nervous System.- Ganglioside Inner Esters.- Human Brain Lipid Composition Changes With Age and Alterations in Some Pathological States: A New Method of Graphic Analysis.- Brain Glycoproteins and Inter-Cell Recognition: Tay-Sachs Disease and Intraneuronal Recognition.- A Fast Moving Protein in Tay-Sachs Disease.- Effect of Amino Acid Imbalance on Profiles and Protein Synthesis in Fetal Cerebral Cortex.- Purification and Properties of Two Sphingolipid Hydrolases.- Deficiency of Specific Proteins in the Inborn Errors of Mucopolysaccharide Metabolism.- The Degradation of Acid Mucopolysaccharides and the Mucopolysaccharidoses.- The Mucopolysaccharidoses as Lysosomal Diseases.- Recent Observations on Gaucher's Disease.- Interaction of Enzymes with Lipid Substrates.- Problems in Prenatal Diagnosis Using Sphingolipid Hydrolase Assays.- Radioactive Precursor Incorporation Into Lipids of Humans with Cerebral Lipidoses: 1-14C-Glucosamine, U3H-Serine, and 3H-Acetate.- An Investigation of the Metabolism of Tay-Sachs Ganglioside Specifically Labeled in Critical Portions of the Molecule.- Chemistry and Metabolism of Glycosphingolipids in Fabry's Disease.- The Chemical Pathology of Tay-Sachs Disease.- Sandhoff's Disease: Studies on the Enzyme Defect in Homozygotes and Detection of Heterozygotes.- An Unusual Case of GM2-Gangliosidosis With Deficiency of Hexosaminidase A and B.- Sandhoff's Disease: Ultrastructural and Biochemical Studies.- Biochemical Studies on GM1-Gangliosidosis and Ceramide Trihexosidosis.- Chemical Pathology of Tay-Sachs Disease in the Fetus.- Glycosphingolipid Abnormalities in Liver From Patients with Glycosphingolipid and Mucopolysaccharide Storage Diseases.- Recent Advances in Metachromatic Leukodystrophy.- Liver Glycolipids, Steroid Sulfates and Steroid Sulfatases in a Form of Metachromatic Leukodystrophy Associated with Multiple Sulfatase Deficiencies.- In Vitro Studies in Sulfatide Lipidosis.- Factors Affecting the Metabolism of Galactocerebroside and Glucocerebroside.- Further Studies on Galactocerebroside ?-Galacto sidase in Globoid Cell Leukodystrophy.- Brain Gangliosides in Krabbe Disease.- Phytanic Acid Storage Disease.- Studies on a Case of Lipogranulomatosis (Farber's Disease) With Protracted Course.- Biochemical Studies on Brain Explants and Fibroblast Cultures in Batten's Disease.- Population Dynamics of Tay-Sachs Disease. II. What Confers the Selective Advantage Upon the Jewish Heterozygote?.- Effect of Maternal Protein Deficiency on Ganglioside Metabolism in Neonatal Rat Brain.- Sphingolipidoses: Detection of Heterozygotes and Homozygotes.- Pre- and Postnatal Detection of Tay-Sachs Disease. A Comparative Study of Biochemical Screening Methods.- Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders.- Metabolic Changes Following Splenic Transplantation in a Case of Gaucher's Disease.- Studies on the Metabolic Control of Fabry's Disease Through Kidney Transplantation.- The Induction of Sulfatide, Ganglioside and Cerebroside Storage in Organized Nervous System Cultures.- Nutritional Support, Including Intravenous Alimentation, for the Infant with Wolman's Disease.- Precocious Puberty in Tay-Sachs Disease.- Summary Remarks.


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Product Details
  • ISBN-13: 9780306390197
  • Publisher: Springer Science+Business Media
  • Publisher Imprint: Kluwer Academic/Plenum Publishers
  • Edition: 1972 ed.
  • Language: English
  • Returnable: N
  • Spine Width: mm
  • Width: 160 mm
  • ISBN-10: 0306390191
  • Publisher Date: 31 Dec 1995
  • Binding: Hardback
  • Height: 250 mm
  • No of Pages: 691
  • Series Title: English
  • Weight: 789.25 gr


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