Inborn Disorders Of Sphingolipid Metabolism PDF Download
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Author | : Stanley M. Aronson |
Publisher | : Elsevier |
Total Pages | : 530 |
Release | : 2017-01-31 |
Genre | : Health & Fitness |
ISBN | : 1483223582 |
Download Inborn Disorders of Sphingolipid Metabolism Book in PDF, ePub and Kindle
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.
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Publisher | : |
Total Pages | : |
Release | : 1967 |
Genre | : Brain |
ISBN | : |
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Author | : Bruno Volk |
Publisher | : Springer Science & Business Media |
Total Pages | : 693 |
Release | : 2013-04-17 |
Genre | : Medical |
ISBN | : 1475765703 |
Download Sphingolipids, Sphingolipidoses and Allied Disorders Book in PDF, ePub and Kindle
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.
Author | : L. Ashley Cowart |
Publisher | : Springer Science & Business Media |
Total Pages | : 163 |
Release | : 2011-09-15 |
Genre | : Science |
ISBN | : 1461406501 |
Download Sphingolipids and Metabolic Disease Book in PDF, ePub and Kindle
Current thinking holds that obesity derives primarily from overnutrition (though compelling arguments for other mechanisms, like endocrine disruption by environmental pollutants, also gain support from the literature). In animals, overnutrition is initially handled by adipose tissue expansion; however, exhaustion of this route of lipid sequestering results in oversupply of lipid to other tissues including skeletal muscle, heart, liver, and others. Failure of these tissues to clear excess lipids through either metabolism or sequestration into putatively inert triacylglycerols results in perturbation of bioactive lipid metabolism in cells. In particular, aberrant generation of bioactive sphingolipids is implicated in a multitude of pathological outcomes of metabolic disease including insulin resistance, inflammation, cardiomyopathy, and others. This volume addresses not only the fundamentals of sphingolipid metabolism and analysis, but also the roles of sphingolipids in these disease processes.
Author | : Jean-Marie Saudubray |
Publisher | : Springer |
Total Pages | : 658 |
Release | : 2016-11-10 |
Genre | : Medical |
ISBN | : 3662497719 |
Download Inborn Metabolic Diseases Book in PDF, ePub and Kindle
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
Author | : Roland Ellis |
Publisher | : Taylor & Francis |
Total Pages | : 105 |
Release | : 1980 |
Genre | : METABOLISM, INBORN ERRORS |
ISBN | : 9780709900276 |
Download Inborn Errors of Metabolism Book in PDF, ePub and Kindle
Author | : Juan M. Pascual |
Publisher | : Cambridge University Press |
Total Pages | : 507 |
Release | : 2017-04-20 |
Genre | : Medical |
ISBN | : 1107042054 |
Download Progressive Brain Disorders in Childhood Book in PDF, ePub and Kindle
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author | : Y. Hirabayashi |
Publisher | : Springer Science & Business Media |
Total Pages | : 528 |
Release | : 2007-12-31 |
Genre | : Science |
ISBN | : 4431342001 |
Download Sphingolipid Biology Book in PDF, ePub and Kindle
Sphingolipids are fundamental to the structures of cell membranes, lipoproteins, and the stratum cornea of the skin. Many complex sphingolipids, as well as simpler sphingoid bases and derivatives, are highly bioactive as extra- and intracellular regulators of growth, differentiation, migration, survival, senescence, and numerous cellular responses to stress. This book reviews exciting new developments in sphingolipid biology/sphingolipidology that challenge our understanding of how multicellular organisms grow, develop, function, age, and die.
Author | : Jonathan R. Hiatt |
Publisher | : Springer Science & Business Media |
Total Pages | : 291 |
Release | : 2012-12-06 |
Genre | : Medical |
ISBN | : 3642605745 |
Download Surgical Diseases of the Spleen Book in PDF, ePub and Kindle
Surgical Diseases of the Spleen written and edited by internationally renowned scientists will be a masterpiece for any institution. It provides an updated multidisciplinary review of diseases of the spleen. Experts in the field have customed their chapters to further ease the readers understanding offering all the information needed to progress in this area. Different sections on basic concepts, specific splenic diseases and operative techniques cover new aspects in immunology, infectious, traumatic and neoplastic conditions.
Author | : Frederick J. Suchy |
Publisher | : Cambridge University Press |
Total Pages | : 875 |
Release | : 2021-03-18 |
Genre | : Medical |
ISBN | : 1108911374 |
Download Liver Disease in Children Book in PDF, ePub and Kindle
Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.