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Alpha N Acetylgalactosaminidase
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Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers 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
Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole
Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 772 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Book Synopsis Essentials of Glycobiology by : Ajit Varki
Download or read book Essentials of Glycobiology written by Ajit Varki and published by CSHL Press. This book was released on 1999 with total page 694 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.
Download or read book Fabry Disease written by Deborah Elstein and published by Springer Science & Business Media. This book was released on 2010-08-02 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg
Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Academic Press. This book was released on 2020-06-24 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to 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. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Book Synopsis Erythroid Cells—Advances in Research and Application: 2013 Edition by :
Download or read book Erythroid Cells—Advances in Research and Application: 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-06-21 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Erythroid Cells—Advances in Research and Application: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about ZZZAdditional Research in a concise format. The editors have built Erythroid Cells—Advances in Research and Application: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about ZZZAdditional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Erythroid Cells—Advances in Research and Application: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Book Synopsis Co- and Post-Translational Modifications of Therapeutic Antibodies and Proteins by : T. Shantha Raju
Download or read book Co- and Post-Translational Modifications of Therapeutic Antibodies and Proteins written by T. Shantha Raju and published by John Wiley & Sons. This book was released on 2019-03-15 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Comprehensive Guide to Crucial Attributes of Therapeutic Proteins in Biological Pharmaceuticals With this book, Dr. Raju offers a valuable resource for professionals involved in research and development of biopharmaceutical and biosimilar drugs. This is a highly relevant work, as medical practitioners have increasingly turned to biopharmaceutical medicines in their search for safe and reliable treatments for complex diseases, while pharmaceutical researchers seek to expand the availability of biopharmaceuticals and create more affordable biosimilar alternatives. Readers receive a thorough overview of the major co-translational modifications (CTMs) and post-translational modifications (PTMs) of therapeutic proteins relevant to the development of biotherapeutics. The majority of chapters detail individual CTMs and PTMs that may affect the physicochemical, biochemical, biological, pharmacokinetic, immunological, toxicological etc. properties of proteins. In addition, readers are guided on the methodology necessary to analyze and characterize these modifications. Thus, readers gain not only an understanding of CTMs/PTMs, but also the ability to design and assess their own structure-function studies for experimental molecules. Specific features and topics include: Discussion of the research behind and expansion of biopharmaceuticals Twenty chapters detailing relevant CTMs and PTMs of proteins, such as glycosylation, oxidation, phosphorylation, methylation, proteolysis, etc. Each chapter offers an introduction and guide to the mechanisms and biological significance of an individual CTM or PTM, including practical guidance for experiment design and analysis An appendix of biologic pharmaceuticals currently on the market, along with an assessment of their PTMs and overall safety and efficacy This volume will prove a key reference on the shelves of industry and academic researchers involved in the study and development of biochemistry, molecular biology, biopharmaceuticals and proteins in medicine, particularly as biopharmaceuticals and biosimilars become ever more prominent tools in the field of healthcare.
Book Synopsis Chemistry and Biology of Heparin and Heparan Sulfate by : Hari G. Garg
Download or read book Chemistry and Biology of Heparin and Heparan Sulfate written by Hari G. Garg and published by Elsevier. This book was released on 2011-10-10 with total page 793 pages. Available in PDF, EPUB and Kindle. Book excerpt: The chemistry, biochemistry and pharmacology of heparin and heparan sulfate have been and continue to be a major scientific undertaking - heparin and its derivative remain important drugs in clinical practice. Chemistry and Biology of Heparin and Heparan Sulfate provides readers with an insight into the chemistry, biology and clinical applications of heparin and heparan sulfate and examines their function in various physiological and pathological conditions. Providing a wealth of useful information, no other tome covers the diversity of topics in the field. Students, doctors, chemists, biochemists, and research scientists will find this book an invaluable source for updating their current knowledge of developments in this area. - Comprehensively reviews all aspects of heparin and heparan sulfate research - Uniquely describes the chemistry, biology and clinical application of heparins and heparan sulfates in one work - Provides an invaluable source of knowledge of current developments for chemists, biochemists, medical doctors, researchers, students and practitioners
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Author :Michael L. Vasil Publisher :American Society for Microbiology Press ISBN 13 :1555816762 Total Pages :1189 pages Book Rating :4.5/5 (558 download)
Book Synopsis Regulation of Bacterial Virulence by : Michael L. Vasil
Download or read book Regulation of Bacterial Virulence written by Michael L. Vasil and published by American Society for Microbiology Press. This book was released on 2012-12-05 with total page 1189 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive compendium of scholarly contributions relating to bacterial virulence gene regulation. • Provides insights into global control and the switch between distinct infectious states (e.g., acute vs. chronic). • Considers key issues about the mechanisms of gene regulation relating to: surface factors, exported toxins and export mechanisms. • Reflects on how the regulation of intracellular lifestyles and the response to stress can ultimately have an impact on the outcome of an infection. • Highlights and examines some emerging regulatory mechanisms of special significance. • Serves as an ideal compendium of valuable topics for students, researchers and faculty with interests in how the mechanisms of gene regulation ultimately affect the outcome of an array of bacterial infectious diseases.
Book Synopsis Handbook of Glycomics by : Richard D. Cummings
Download or read book Handbook of Glycomics written by Richard D. Cummings and published by Academic Press. This book was released on 2009-10-19 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Handbook of Glycomics provides the first comprehensive overview of the emerging field of glycomics, defined as the study of all complex carbohydrates in an organism or cell ("the glycome"). Beginning with analytic approaches and bioinformatics, this work provides a detailed discussion of relevant databases, data integration, and analysis. It then moves on to a discussion of specific model organism and pathogen glycomes followed by therapeutic approaches to human disorders of glycosylization. Structure and function of glycomes are included along with state-of-the-art technologies and systems approaches to the analysis of glycans. - Synthesizes contributions from experts in biology, chemistry, bioinformatics, biotechnology, and medicine - Highlights chapters devoted to chemical synthesis, cancer glycomics and immune cell glycomics - Includes discussions of proteomics, mass spectrometry, NMR, array technology, and transcriptomics analytic approaches
Book Synopsis Mollison's Blood Transfusion in Clinical Medicine by : Harvey G. Klein
Download or read book Mollison's Blood Transfusion in Clinical Medicine written by Harvey G. Klein and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 923 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Both authors have dealt in an authoritative way withthe still rapidly expanding specialty and the eleventh edition ofthe book will be of the greatest value to all who are interested inthe scientific and practical aspects of blood transfusion inclinical medicine.” From the Foreword by Professor P.L. Mollison Highly respected, long-established book that has become the"bible" in transfusion medicine Why Buy This Book? Provides a sound basis for understanding modern transfusionmedicine Definitive reference source for any clinician involved withpatients requiring transfusion and for all staff working intransfusion services, immunohaematology laboratories and bloodbanks Highly practical advice on management issues for theclinician Completely revised and updated to reflect the rapid pace ofchange in transfusion medicine Written by two of the world's leading experts in the field
Book Synopsis The Fungal Cell Wall by : Jean-Paul Latgé
Download or read book The Fungal Cell Wall written by Jean-Paul Latgé and published by Springer Nature. This book was released on 2020-08-12 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book illustrates, that the fungal cell wall is critical for the biology and ecology of all fungi and especially for human fungal pathogens. Readers will learn, that the composition of the fungal cell wall is a unique structure, which cannot be found in the human host. Consequently, the chapters outline, how the immune systems of both animals and humans have evolved to recognize conserved and unique elements of the fungal cell wall. As an application example, the authors also show, that the three-dimensional structures of the cell wall are excellent targets for the development of antifungal agents and chemotherapeutic strategies. With the combination of biological findings and medical outlooks, this volume is a fascinating read for scientists, clinicians and biomedical students.
Book Synopsis Genetic Diseases of the Kidney by : Richard P. Lifton
Download or read book Genetic Diseases of the Kidney written by Richard P. Lifton and published by Academic Press. This book was released on 2009-02-25 with total page 895 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)
Book Synopsis Aquaculture Genome Technologies by : Zhanjiang (John) Liu
Download or read book Aquaculture Genome Technologies written by Zhanjiang (John) Liu and published by John Wiley & Sons. This book was released on 2008-02-28 with total page 579 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics is a rapidly growing scientific field with applications ranging from improved disease resistance to increased rate of growth. Aquaculture Genome Technologies comprehensively covers the field of genomics and its applications to the aquaculture industry. This volume looks to bridge the gap between a basic understanding of genomic technology to its practical use in the aquaculture industry.
