Current Trends in Sphingolipidoses and Allied Disorders

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Publisher : Springer Science & Business Media
ISBN 13 : 1468477358
Total Pages : 603 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Current Trends in Sphingolipidoses and Allied Disorders by : Bruno Volk

Download or read book Current Trends in Sphingolipidoses and Allied Disorders written by Bruno Volk and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 603 pages. Available in PDF, EPUB and Kindle. Book excerpt: The present volume contains the scientific contributions to the Fifth International Symposium on "Current Trends in Sphingo lipidoses and Allied Disorders" under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, the Department of Pathology, Downstate Medical Center, State Uni versity of New York, Brooklyn, New York, and the National Tay-Sachs and Allied Diseases Association, Inc., New York. A review of the four previous Symposia shows the increase in scope of the scientific exploration in this rapidly expanding field. The first meeting, held in 1958, was devoted to the discussion al most entirely of Tay-Sachs disease. The majority of the work emanated from local laboratories. The participants at the present Symposium came from many other domestic and foreign research in stitutions. The scope of the papers presented at these meetings and the interest shown in the Symposium demonstrates the signifi cance attached by the scientific community to the problems of these hereditary diseases. The reasons for this are apparent, when one considers the contributions during recent years to our basic know ledge by lipid and enzyme chemistry, genetics, and neuropathology. Partly because of the hereditary nature of these diseases any new discovery in this field has general meaning and permits cautious generalization well beyond its clinical significance.

Sphingolipid Biochemistry

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Publisher : Springer Science & Business Media
ISBN 13 : 1475703961
Total Pages : 495 pages
Book Rating : 4.4/5 (757 download)

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Book Synopsis Sphingolipid Biochemistry by : Julian N. Kanfer

Download or read book Sphingolipid Biochemistry written by Julian N. Kanfer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 495 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genetic Disorders and the Fetus

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Publisher : Springer Science & Business Media
ISBN 13 : 1468434381
Total Pages : 718 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

National Library of Medicine Current Catalog

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis National Library of Medicine Current Catalog by : National Library of Medicine (U.S.)

Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1972 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.

Catalog of Copyright Entries. Third Series

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Publisher : Copyright Office, Library of Congress
ISBN 13 :
Total Pages : 1610 pages
Book Rating : 4.F/5 ( download)

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Book Synopsis Catalog of Copyright Entries. Third Series by : Library of Congress. Copyright Office

Download or read book Catalog of Copyright Entries. Third Series written by Library of Congress. Copyright Office and published by Copyright Office, Library of Congress. This book was released on 1977 with total page 1610 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Lipid Storage Disorders

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Publisher : Springer Science & Business Media
ISBN 13 : 1461310296
Total Pages : 791 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Lipid Storage Disorders by : R. Salvayre

Download or read book Lipid Storage Disorders written by R. Salvayre and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 791 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the proceedings of the meeting on "Lipid Storage Disorders" which took place in Toulouse, France, in September 14-18, 1987 and which was set up as a joint NATO Advanced Research Workshop and INSERM International Symposium. The meeting probably was the first truly international symposium devoted entirely to basic as well as applied aspects of lipid metabolism as related to the lipid storage disorders. Participants came from Europe, USA, Israel and Japan, and presented data on research in molecular biology and genetics, enzymology, cell biology as well as medical and epidemiological aspects of normal and pathological lipid metabolism. In the latter case, special attention was directed to the lysosomal B-glucosidase in relation to Gaucher disease and to sphin gomyelinase in relation to Niemann-Pick disease, and "two round" table discussions were devoted to the two respective items. But research on many other lipidoses was presented, as lectures or posters and avidly discussed. Other topics presented in special sessions were drug induced lipidoses and peroxisomal disorders. The meeting ended with a session devoted to medical aspects of disorders of lipid metabolism. The symposium which included about 50 lectures and close to 70 posters had an intense scientific character superimposed on a most pleasant and collegial atmosphere. Ample time was provided to personal discussions ; lodging of the participants in the students' residence located near the meeting place, permitted further contacts between them.

Sphingolipids, Sphingolipidoses and Allied Disorders

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Publisher : Springer Science & Business Media
ISBN 13 : 1475765703
Total Pages : 693 pages
Book Rating : 4.4/5 (757 download)

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Book Synopsis Sphingolipids, Sphingolipidoses and Allied Disorders by : Bruno Volk

Download or read book Sphingolipids, Sphingolipidoses and Allied Disorders written by Bruno Volk and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 693 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Scientific Directory and Annual Bibliography

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Publisher :
ISBN 13 :
Total Pages : 852 pages
Book Rating : 4.E/5 ( download)

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Book Synopsis Scientific Directory and Annual Bibliography by : National Institutes of Health (U.S.)

Download or read book Scientific Directory and Annual Bibliography written by National Institutes of Health (U.S.) and published by . This book was released on 1976 with total page 852 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Published Scientific Papers of the National Institutes of Health

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Publisher :
ISBN 13 :
Total Pages : 420 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Published Scientific Papers of the National Institutes of Health by : National Institutes of Health (U.S.)

Download or read book Published Scientific Papers of the National Institutes of Health written by National Institutes of Health (U.S.) and published by . This book was released on 1977 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each issue lists papers published during the preceding year.

Spontaneous Animal Models of Human Disease

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Publisher : Elsevier
ISBN 13 : 0323138284
Total Pages : 345 pages
Book Rating : 4.3/5 (231 download)

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Book Synopsis Spontaneous Animal Models of Human Disease by : Edwin J. Andrews

Download or read book Spontaneous Animal Models of Human Disease written by Edwin J. Andrews and published by Elsevier. This book was released on 2012-12-02 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: This two-volume work gathers together the diverse information presently available on spontaneous animal models of human disease. In addition to providing a comprehensive review of existing models, the book presents many previous unpublished new models.The scope of this work is limited to spontaneous models. Neoplasia, infectious diseases including parasitism, and nutritionally induced or other types of experimental models have not been included. The sixteen parts of the book are alphabetically arranged according to organ system with over 230 authors contributing to the overall effort. In addition to many illustrations, the book features an extensive bibliography.

Molecular Basis of Lysosomal Storage Disorders

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Publisher : Elsevier
ISBN 13 : 0323147283
Total Pages : 523 pages
Book Rating : 4.3/5 (231 download)

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Book Synopsis Molecular Basis of Lysosomal Storage Disorders by : John Barranger

Download or read book Molecular Basis of Lysosomal Storage Disorders written by John Barranger and published by Elsevier. This book was released on 2012-12-02 with total page 523 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Basis of Lysosomal Storage Disorders contains the proceedings of the 1983 Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health in Bethesda, Maryland. The papers focus on the molecular biology of, and therapeutic approaches to, lysosomal storage disorders, such as mucopolysaccharidoses, sphingolipidoses, and Gaucher disease. Organized into six sections comprised of 29 chapters, this book begins with an overview of enzymes, activator proteins, and stabilizers that underlie lysosomal storage disorders. It then discusses some developments in enzyme purification, receptors for glycoprotein enzymes, factors that control endocytosis, and the intracellular fate of lysosomal hydrolases. Some chapters explain the enzyme biosynthesis, bone marrow transplantation, and enzyme replacement, along with cell hybridization, chromosome localization, phenotype discrimination, and cloning of genes for human lysosomal enzymes. This book is helpful to biochemists, physiologists, pathologists, geneticists, clinical investigators, and practicing physicians concerned with the study, care, and treatment of patients with hereditary metabolic disorders, as well as undergraduate and graduate level students involved in research in this discipline.

Screening and Management of Potentially Treatable Genetic Metabolic Disorders

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Publisher : Springer Science & Business Media
ISBN 13 : 9780852007846
Total Pages : 182 pages
Book Rating : 4.0/5 (78 download)

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Book Synopsis Screening and Management of Potentially Treatable Genetic Metabolic Disorders by : P.F. Benson

Download or read book Screening and Management of Potentially Treatable Genetic Metabolic Disorders written by P.F. Benson and published by Springer Science & Business Media. This book was released on 1984-03-31 with total page 182 pages. Available in PDF, EPUB and Kindle. Book excerpt: 1 The success of early diagnosis and therefore of treatment of phe nylketonuria, inevitably suggests the possibility of early screening and treatment of other genetic metabolic abnormalities. This volume contains a summary of papers delivered at a Workshop on "Recent Advances in Screening and Management of Potentially Trea table Genetic Metabolic Disorders" held under the auspices of the Com mission of the European Communi ties, in London, U. K., on the 17th and 18th March 1983 to consider such possibilities. The Workshop was not aimed at those disorders for which the prin ciples of treatment and management have been soundly established, or for which screening procedures are in general use. The papers therefore do not form a comprehensive account of metabolic disorders. The topics for discussion were selected mainly to highlight recent discoveries which might be exploited by concerted approaches between different cen tres, especially when the immediate benefits were restricted to only a few centres. Recent reports suggest that about 2% of infants with persistent hyperphenylaninaemia do not respond to treatment by phenylalanine - low diets, and develop severe brain damage. Infants with such "Malignant Hyperphenylalaninaemia" due to one of several genetic causes of tetrahy drobiopterin deficiency should be rapidly identi fied since there is evidence that appropriate treatment will prevent brain damage. The Workshop considered how appropriate screening could be made generally available.

Fetal and Neonatal Pathology

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Publisher : Springer Science & Business Media
ISBN 13 : 1447135237
Total Pages : 596 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis Fetal and Neonatal Pathology by : Jean W. Keeling

Download or read book Fetal and Neonatal Pathology written by Jean W. Keeling and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fetal and Neonatal Pathology presents in one volume an account of the pathological findings encountered when examining fetuses from the second and third trimester of pregnancy as well as in neonatal death. It provides essential clinical and physiological information and discusses the pathogenesis of pathological findings as a guide to the formulation of the appropriate method of investigation. The book is divided into two parts. The first deals with examination of the products of conception after termination of pregnancy for fetal anomaly. The range of pathological abnormality is described and its relevance discussed. Attention is drawn to the differences in pathological findings in specific conditions between the second and third trimester. The second part of the book is system orientated and describes and illustrates those pathological problems which are likely to be encountered in the fetus and neonate. Each chapter is introduced by a concise account of the development of that system. Where relevant there is also discussion of changes at birth as well as changes in normal function that may occur during the neonatal period. Fetal and Neonatal Pathology is primarily written for the morbid anatomist and histopathologist. It also provides a valuable source of reference for obstetricians, neonatologists and paediatricians. Its value as a working tool of reference is enhanced by effective cross-referencing between sections by both chapter and page number. 1

Pathological Neurochemistry

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Publisher : Springer Science & Business Media
ISBN 13 : 1475707975
Total Pages : 803 pages
Book Rating : 4.4/5 (757 download)

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Book Synopsis Pathological Neurochemistry by : Abel Lajtha

Download or read book Pathological Neurochemistry written by Abel Lajtha and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 803 pages. Available in PDF, EPUB and Kindle. Book excerpt: More than for any other volume of the Handbook of Neurochemistry, the chap ters in this volume on Pathological Neurochemistry deal with the interface of the laboratory bench with the patient's bedside. Most of the chapters reflect the confluence of basic scientists, clinical investigators, and physicians. Con sidered here are many of the more important disorders that afflict the nerves, muscles, spinal cord, and/or brain of mankind throughout the world. There are well over 500 such disorders. And our understanding of their nature and of measures for effective prevention or treatment depends significantly on appli cation of the biochemical disciplines that characterize neurochemistry. Before World War II, any attempt to compile a volume on pathological neurochemistry would have been largely descriptive and very rudimentary, as such "handbooks" by Hans Winterstein (1929), Irvine Page (1937), and others demonstrate. But thanks to the many major advances in research and tech nology in the postwar decades, we now stand at the threshold of understanding how to manage many of the major neurological disorders, and we may expect more such delineations in the immediate decades ahead. Neurochemistry, de fined broadly, has played a central role in this extraordinary turn of events, progressing from what J. L. W, Thudichum in 1884 called objects of anxious empiricism to his anticipation of the proud exercise of chemical precision.

Enzymes of Lipid Metabolism

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Publisher : Springer Science & Business Media
ISBN 13 : 146159071X
Total Pages : 765 pages
Book Rating : 4.4/5 (615 download)

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Book Synopsis Enzymes of Lipid Metabolism by : Shimon Gatt

Download or read book Enzymes of Lipid Metabolism written by Shimon Gatt and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 765 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Reticuloendothelial System in Health and Disease

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Publisher : Springer Science & Business Media
ISBN 13 : 1468432974
Total Pages : 497 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis The Reticuloendothelial System in Health and Disease by : S.M. Reichard

Download or read book The Reticuloendothelial System in Health and Disease written by S.M. Reichard and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 497 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Reticuloendothelial System in Health and Disease

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Publisher : Springer Science & Business Media
ISBN 13 : 1468433008
Total Pages : 480 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis The Reticuloendothelial System in Health and Disease by : Herman Friedman

Download or read book The Reticuloendothelial System in Health and Disease written by Herman Friedman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: