Inborn Disorders of Sphingolipid Metabolism - 1st Edition - ISBN: 9781483198552, 9781483223582

Inborn Disorders of Sphingolipid Metabolism

1st Edition

Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses

Editors: Stanley M. Aronson Bruno W. Volk
eBook ISBN: 9781483223582
Imprint: Pergamon
Published Date: 1st January 1967
Page Count: 530
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Description

Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.

Table of Contents


Contributors and Participants

Morphological Studies

Electron Microscopic Observations in Batten's Disease

Juvenile Form of Amaurotic Family Idiocy. A Contribution to the Morphological, Histochemical and Electron Microscopic Aspects

The Myoclonic Variant of Cerebral Lipidosis

Anatomo-chemical Study of the White Matter in Late Infantile Amaurotic Idiocy

The Fine Structure of the Brain and Other Organs in Niemann-Pick Disease

Electron Microscopic and Histochemical Studies of Viscera in Lipidoses

Luxol-Dye Staining in Lipid Storage Diseases

Studies on Spongy Degeneration of the Central Nervous System (Van Bogaert-Bertrand Type)

The Syndrome of Familial Leukodystrophy, Adrenal Insufficiency and Cutaneous Melanosis

Biochemical Studies

The Metabolism of Gangliosides in Cerebral Lipidoses

Studies on the Biosynthesis of Gangliosides

Studies on the Biosynthesis of Gangliosides

Ganglioside Patterns of Normal and Pathological Brains

Structural Studies of the Tay-Sachs Ganglioside and its Normal Brain Counterpart

Isolation and Structural Analysis of Brain Gangliosides

The Metabolism of Sialic Acids

Comparison of Four Enzymes from Brain which Hydrolyze Sphingolipids

The Nature of the Lipophilic Portions of the Brain Gangliosides

Brain Proteins in the Sphingolipidoses: Tay-Sachs Disease Protein

Comparative Studies of Normal Human and Tay-Sachs Gangliosides—An Immunochemical Approach

Variations in Lipid Composition of Human Brain During Development and in the Sphingolipidoses: Use of Two-dimensional Thin-layer Chromatography

The Formation of Membrane Aggregates

Determination of the Lipid Bases in the Lipids of Spinal Cord, Optic Nerve and Sciatic Nerve of Some Species

Cerebroside Metabolism in Experimental Phenylketonuria and Galactosemia

Some Recent Findings in Leukodystrophies and in Gargoylism

Isolation and Characterization of the Principal Cerebral Glycolipids in the Infantile and Adult Forms of Gaucher's Disease

Genetic and Clinical Studies

Clinical Manifestations of Tay-Sachs Disease and Niemann-Pick Disease

The Sleep-Dream Pattern in Tay-Sachs Disease (Preliminary Observations)

On the Chemical Changes in the Red Cell Stroma in Tay-Sachs Disease: Their Value as Genetic Tracers

Reproductive Fitness and Selection in Tay-Sachs Disease

Persistence of a Metabolic Defect in Tissue Cultures Derived from Patients with Niemann-Pick Disease

Studies on the Genetics of the Hurler-Hunter Syndrome

Leukocytic Hypergranulation versus Lymphocytic Vacuolization as Markers for Heterozygotes and Homozygotes with Batten-Spielmeyer Vogt Disease

The "Lipogranulomatosis" Syndrome: Review, with Report of Patient Showing Milder Involvement

Summary Remarks

Index




Details

No. of pages:
530
Language:
English
Copyright:
© Pergamon 1967
Published:
Imprint:
Pergamon
eBook ISBN:
9781483223582

About the Editor

Stanley M. Aronson

Bruno W. Volk