Inborn Disorders of Sphingolipid Metabolism
Inborn Disorders of Sphingolipid Metabolism

Author: Stanley M. Aronson

Publisher: Elsevier

Published: 2017-01-31

Total Pages: 530

ISBN-13: 1483223582

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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.

Lipids and Lipidoses
Lipids and Lipidoses

Author: G. Schettler

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 637

ISBN-13: 3642873677

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Advances which have been made in the field of lipid chemistry and bio chemistry during the last ten years mainly are the results of progress in metho dology. The introduction of isotopic and chromatographic techniques has not only enriched our knowledge of normal lipid metabolism but has also greatly enhanced the understanding of the various lipidoses. This is well illustrated by a comparison of the contents of the present monograph with those of my 1955 review in Handbuch der Inneren Medizin (Springer). In addition to better information about the classic lipid thesaurismoses Nie mann-Pick disease, Gaucher's disease and Tay-Sachs disease, the number of hereditary lipid storage diseases has increased considerably through the recogni tion of new syndromes such as metachromatic leukodystrophy, Fabry's disease, Refsum's disease (heredopathia atactica polyneuritiformis), a-p-lipoproteinemia, and Tangier disease. Conversely, disorders such as Hand-Scholler-Christian disease which has been considered a lipidosis up to 1958 (THANNHAUSER) must now be differentiated from the hereditary disturbances of lipid metabolism. Essential hyperlipemia which at one time seemed to be a well defined entity has now been recognized to consist of a number of subgroups, whose pathogeneses appear to be quite different, and whose classification is by no means definite. Similar problems exist for "essential hypercholesterolemia". Since the knowledge of today is the key for the solutions of tomorrow, we are fortunate that the chapters on lipidoses are supplemented by a comprehensive account of lipid chemistry and biochemistry which has been coordinated by W. STOFFEL.

Lipid metabolism in mammals
Lipid metabolism in mammals

Author: Fred Snyder

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 415

ISBN-13: 1468428322

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During the past decade we have witnessed a vast expansion in our knowl edge of lipid metabolism, especially for mammalian tissues. One obvious conclusion arising from these studies is that no single overall scheme of lipid metabolism can be classed as distinctly characteristic of all mamma lian organs. Although certain synthetic and degradative lipid pathways are similar in a variety of organs, I have been impressed by the notable exceptions. I was motivated to organize this work on Lipid Metabolism in Mammals because of the lack of a single reference source containing a comparative organ approach to lipid metabolism in mammals that empha sizes the uniqueness of pathways in the various organs of the body. Because of the escalation in lipid research, I also feel strongly that there is an urgent need for an updated concise account of this field. The group of authors for the chapters in the two volumes of Lipid Metabolism in Mammals were selected for their expertise and personal experience with the lipid metabolism of the organs or blood constituents that are the subjects of the chapters. Sufficient leeway has been given each author to approach the subject matter from a personal viewpoint. How ever, the overall direction of each chapter has been slanted to emphasize the similarities and differences in lipid metabolism among organ systems. The introductory chapter on general pathways provides a convenient refer ence to illustrations of specific reaction sequences that are well established and that occur in a number of organs.

Sphingolipids, Sphingolipidoses and Allied Disorders
Sphingolipids, Sphingolipidoses and Allied Disorders

Author: Bruno Volk

Publisher: Springer Science & Business Media

Published: 2013-04-17

Total Pages: 693

ISBN-13: 1475765703

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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.