Purine Metabolism in Man-III
Author: A. Rapado
Publisher: Springer Science & Business Media
Published: 2012-12-06
Total Pages: 433
ISBN-13: 1461591406
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Biomarkers in Inborn Errors of Metabolism
Author: Uttam Garg
Publisher: Elsevier
Published: 2017-06-07
Total Pages: 477
ISBN-13: 0128029188
DOWNLOAD EBOOKBiomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Purine Metabolism in Man—II
Author: Mathias M. Muller
Publisher: Springer Science & Business Media
Published: 2013-11-11
Total Pages: 661
ISBN-13: 1461342236
DOWNLOAD EBOOKThe study of gouty arthritis has provided a common meeting ground for the research interests of both the basic scientist and the clinician. The interest of the chemist in gout began 1776 with the isolation of uric acid from a concretion of the urinary tract by the Swedish chemist SCHEELE. The same substance was subsequently extracted from a gouty tophus by the British chemist WOLLASTONE in 1797 and a half century later the cause of the deposits of sodium urate in such tophi was traced to a hyperuricemia in the serum of gouty patients by the British physician Alfred Baring GARROD who had also received training in the chemical laboratory and was therefore a fore-runner of many of today's clinician-investigators. The recent surge of progress in understanding of some of the causes of gout in terms of specific enzyme defects marks the entrance of the biochemist into this field of investigation. The identification of the first primary defect of purine metabolism associated with over-production of uric acid, a severe or partial deficiency of the enzyme hypoxanthine-guanine phospho ribosyltransferase was achieved less than a decade ago. The knowledge of the mechanism of purine over-production that it generated led shortly to the identification of families carrying a dominantly (possibly X-linked) inherited increase in the activity of the enzyme phosphoribosylpyrophosphate synthetase as a cause of purine over-production. Yet this is only a start as these two types of enzyme defects account for less than five per cent of gouty patients.
Purine Metabolism in Man-IV
Author: Chris H. De Bruyn
Publisher: Springer Science & Business Media
Published: 2012-12-06
Total Pages: 533
ISBN-13: 1468445537
DOWNLOAD EBOOKThese two volumes, entitled "Purine Metabolism in Man IV" con tain the paper presented at the "IV. International Symposium on Human Purine and Pyrimidine Metabolism," held in Maastricht (The Netherlands), June 1982. The proceedings of the three previous meet ings in Tel Aviv (Israel, 1973), Baden (Austria, 1976) and Madrid (Spain, 1979) were also published by Plenum Press. In the past few years interest in purine and pyrimidine metabo lism under normal and pathological conditions has been growing rapid ly. Apart from the more or less classical topics such as hyperuricae mia, clinical gout and urolithiasis, an increasing number of papers relating to other fields have been presented at successive meetings. Knowledge derived from the study of purine metabolism in relation to lymphocyte function, for instance, has opened up new possibilities for immunomodulation and leukaemia chemotherapy, with eventual conse quences for other types of cancer. At previous meetings there have been pointers implicating purine metabolism in relation to normal cardiac and skeletal muscle function. During the present meeting much new data on both issues have been re ported which indicate clear differences in the pathways of ATP metabo lism. The widening of the field of interest is also illustrated by the recent work on infectious disease: exploitation of the differences in purine metabolic pathways in certain parasites compared with those in human cells has resulted in new rationales for therapy being devel oped.
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Author: Roger N. Rosenberg
Publisher: Elsevier
Published: 2014-10-28
Total Pages: 1465
ISBN-13: 0124105491
DOWNLOAD EBOOKRosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Purine Metabolism in Man--IV
Author: Chris H. M. M. de Bruyn
Publisher:
Published: 1984
Total Pages:
ISBN-13:
DOWNLOAD EBOOKHuman Biochemistry
Author: Gerald Litwack
Publisher: Academic Press
Published: 2021-11-28
Total Pages: 883
ISBN-13: 032391053X
DOWNLOAD EBOOK**Selected for Doody's Core Titles® 2024 in Biochemistry** Human Biochemistry, Second Edition provides a comprehensive, pragmatic introduction to biochemistry as it relates to human development and disease. Here, Gerald Litwack, award-wining researcher and longtime teacher, discusses the biochemical aspects of organ systems and tissue, cells, proteins, enzymes, insulins and sugars, lipids, nucleic acids, amino acids, polypeptides, steroids, and vitamins and nutrition, among other topics. Fully updated to address recent advances, the new edition features fresh discussions on hypothalamic releasing hormones, DNA editing with CRISPR, new functions of cellular prions, plant-based diet and nutrition, and much more. Grounded in problem-driven learning, this new edition features clinical case studies, applications, chapter summaries, and review-based questions that translate basic biochemistry into clinical practice, thus empowering active clinicians, students and researchers. - Presents an update on a past edition winner of the 2018 Most Promising New Textbook (College) Award (Texty) from the Textbook and Academic Authors Association and the PROSE Award of the Association of American Publishers - Provides a fully updated resource on current research in human and medical biochemistry - Includes clinical case studies, applications, chapter summaries and review-based questions - Adopts a practice-based approach, reflecting the needs of both researchers and clinically oriented readers
The Heterogeneity of Cancer Metabolism
Author: Anne Le
Publisher: Springer
Published: 2018-06-26
Total Pages: 186
ISBN-13: 331977736X
DOWNLOAD EBOOKGenetic alterations in cancer, in addition to being the fundamental drivers of tumorigenesis, can give rise to a variety of metabolic adaptations that allow cancer cells to survive and proliferate in diverse tumor microenvironments. This metabolic flexibility is different from normal cellular metabolic processes and leads to heterogeneity in cancer metabolism within the same cancer type or even within the same tumor. In this book, we delve into the complexity and diversity of cancer metabolism, and highlight how understanding the heterogeneity of cancer metabolism is fundamental to the development of effective metabolism-based therapeutic strategies. Deciphering how cancer cells utilize various nutrient resources will enable clinicians and researchers to pair specific chemotherapeutic agents with patients who are most likely to respond with positive outcomes, allowing for more cost-effective and personalized cancer therapeutic strategies.
Macrophages and Lymphocytes
Author: M. R. Escobar
Publisher: Springer
Published: 1980-01-01
Total Pages: 640
ISBN-13: 9780306402869
DOWNLOAD EBOOKThe Reticuloendothelial (RE) Society, which is concerned with advancement of knowledge concerning the many diverse functions of RE cells, organizes national and international meetings and publishes a scientific journal. The VIII International Congress of theRE Society was held in Jerusalem, Israel, June 18-23, 1978. The Congress had as its scientific objective a wide range of sub jects concerning the RE System, especially as related to macro phage function and interaction with lymphocytes. Emphasis of the Congress was placed on the nature and function of macrophages and other cells of the RE System with reference to immune responses, anti-infectious activity, tumor immunity, autoimmunity, and trans plant rejection. The secretion of soluble factors by macrophages and lymphocytes and the mode of action of these factors on other cells was stressed. During the Congress some discussion was entertained concerning the controversy as to what constitutes the "RE System" per se. Some investigators feel that the phagocytic activity of ~~crophages is the most important aspect of the RE System playing also a major role in many parameters of immunity. Mononuclear phagocytes include tissue macrophages as well as cir culating monocytes and their precursors. Although phagocytosis is a major functional activity of these cells, it is only one of several activities.
Purine Metabolism in Man
Author: Oded Sperling
Publisher: Springer
Published: 1974-03
Total Pages: 404
ISBN-13:
DOWNLOAD EBOOKGout and uric acid lithiasis are known to have affected mankind for thousands of years. It is only recently, however, that great progress has been made in the understanding of the processes involved in purine metabolism and its disorders in man. The key enzymes active in the various pathways of purine synthesis and degradation have become known and their properties are the subject of intensive study. Major contributions to the knowledge of normal purine metabolism in man have derived from the study of inborn errors in patients with purine disorders, specifically complete and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. Mutations of other enzymes involved in purine metabolism are being discovered. A great step forward has been made in the treatment of gout with the introduction of uricosuric drugs and more recently of the hypoxanthine analogue allopurinol, a synthetic xanthine oxidase inhibitor. Furthermore, the complex nature of the renal handling of uric acid excretion, although still posing difficult problems, appears to approach clari fication.
