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• catalog abstract "The present volume contains the scientific contributions to Fifth International Symposium on "Current Trends in Sphingoidoses and Allied Disorders" under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Department of Pathology, Downstate Medical Center, State University of New York, Brooklyn, New York, and the National Tay-Sachs 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 almost 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 institutions. The scope of the papers presented at these meetings d the interest shown in the Symposium demonstrates the significe attached by the scientific community to the problems of these editary diseases. The reasons for this are apparent, when one considers the contributions during recent years to our basic knowledge 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. The complexity of the brain lipids has presented the biochemist with a continuous challenge as to the development of adequate methods for their analysis and characterization and inspired electron microscopists to investigate the fine structure of the affected tissues. Many of the authors who explored the mucopolysac ridoses and leucodystrophies as well as the sphingolipidoses have given recognition to the investigative efforts held in common by the otherwise diverse disease processes. The multiphasic approach to the study of these disorders has resulted in a considerable cross-fertilization within related fields and also has lead to the discoveries of new diseases. Up to this date many enzyme deficiencies underlying most of these genetic afflictions have been elucidated. Since the last Symposium held in 1971, the problems of prevention and possible therapy of these diseases have been given considerable attention. Laboratory screening procedures which are designed to detect carriers of these various disorders have been made available and the prospective identification of heterozygotes has become a powerful adjunct in genetic counseling. A unique feature of this Symposium was the constant awareness of the clinical implications of the fundamental studies presented. This was due not only to the participation of clinicians and the presentation of papers by them, but also to the existence at Kingsbrook Jewish Medical Center of a clinical unit which is devoted exclusively to the care and study of patients with inborn errors of lipid metabolism.".
• catalog contributor b1987266.
• catalog contributor b1987267.
• catalog contributor b1987268.
• catalog contributor b1987269.
• catalog created "c1976.".
• catalog date "1976".
• catalog date "c1976.".
• catalog dateCopyrighted "c1976.".
• catalog description "A unique feature of this Symposium was the constant awareness of the clinical implications of the fundamental studies presented. This was due not only to the participation of clinicians and the presentation of papers by them, but also to the existence at Kingsbrook Jewish Medical Center of a clinical unit which is devoted exclusively to the care and study of patients with inborn errors of lipid metabolism.".
• catalog description "Includes bibliographical references and index.".
• catalog description "Many of the authors who explored the mucopolysac ridoses and leucodystrophies as well as the sphingolipidoses have given recognition to the investigative efforts held in common by the otherwise diverse disease processes. The multiphasic approach to the study of these disorders has resulted in a considerable cross-fertilization within related fields and also has lead to the discoveries of new diseases. Up to this date many enzyme deficiencies underlying most of these genetic afflictions have been elucidated. Since the last Symposium held in 1971, the problems of prevention and possible therapy of these diseases have been given considerable attention. Laboratory screening procedures which are designed to detect carriers of these various disorders have been made available and the prospective identification of heterozygotes has become a powerful adjunct in genetic counseling. ".
• catalog description "The present volume contains the scientific contributions to Fifth International Symposium on "Current Trends in Sphingoidoses and Allied Disorders" under the auspices of the Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Department of Pathology, Downstate Medical Center, State University of New York, Brooklyn, New York, and the National Tay-Sachs 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 almost 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 institutions. ".
• catalog description "The scope of the papers presented at these meetings d the interest shown in the Symposium demonstrates the significe attached by the scientific community to the problems of these editary diseases. The reasons for this are apparent, when one considers the contributions during recent years to our basic knowledge 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. The complexity of the brain lipids has presented the biochemist with a continuous challenge as to the development of adequate methods for their analysis and characterization and inspired electron microscopists to investigate the fine structure of the affected tissues. ".
• catalog extent "xi, 612 p. :".
• catalog identifier "030639068X".
• catalog isPartOf "Advances in experimental medicine and biology ; v. 68".
• catalog issued "1976".
• catalog issued "c1976.".
• catalog language "eng".
• catalog publisher "New York : Plenum,".
• catalog subject "616.3/99".
• catalog subject "Lipid Metabolism, Inborn Errors congresses.".
• catalog subject "Lipids Metabolism Disorders Congresses.".
• catalog subject "RC632.S67 S94 1975".
• catalog subject "Sphingolipidoses Congresses.".
• catalog subject "Sphingolipidoses congresses.".
• catalog subject "W1 Ad559 v. 68 1975 WD205.L5 I64c 1975".
• catalog title "Current trends in sphingolipidoses and allied disorders : [proceedings of the Symposium on the Current Trends in Sphingolipidoses and Allied Disorders held at the Downstate Medical Center, State University of New York, Brooklyn, N.Y., Oct. 20-21, 1975] / edited by Bruno W. Volk and Larry Schneck.".
• catalog type "Conference proceedings. fast".
• catalog type "text".