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Biomarkers In Inborn Errors Of Metabolism

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Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism Book
Author : Uttam Garg,Laurie D. Smith
Publisher : Elsevier
Release : 2017-06-07
ISBN : 0128029188
Language : En, Es, Fr & De

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Book Description :

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

Development of Biochemical Assays for the Screening Diagnosis and Prognosis of Treatable Inborn Errors of Metabolism

Development of Biochemical Assays for the Screening  Diagnosis  and Prognosis of Treatable Inborn Errors of Metabolism Book
Author : Xinying Hong
Publisher : Unknown
Release : 2020
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogenous group of disorders caused by defective enzymes, cofactors or transporters in metabolic pathways, which lead to dysfunctional metabolism and/or the accumulation of toxic intermediate metabolites. Although individually rare, they are common as a group with a combined incidence rate of 1 in 800. A subset of these disorders have viable treatments and novel therapies are being developed at rapid pace for an increasing number of IEM. However, to achieve the optimal therapeutic outcome, it is essential to initiate treatments prior to the onset of irreversible symptoms. Therefore, treatable inborn errors of metabolism are excellent candidates for newborn screening program, which is a broad public health prevention program that aims at identifying a number of conditions for which early intervention can reduce premature mortality and morbidity. Tandem mass spectrometry (MS/MS) is the most comprehensive platform for quantifying enzymatic function and biomarkers in dried blood spots (DBS), which are the sample specimens used in newborn screening programs. An enormous effort has been made to develop high-throughput and robust MS/MS-based biochemical assays for newborn screening. Herein, we report (1) a liquid chromatography MS/MS (LC-MS/MS) assay to improve the current screening test for classic galactosemia; (2) a multiplexed ultra-performance liquid chromatography MS/MS (UPLC-MS/MS) assay for the screening of 18 IEM; (3) a large-scale study to investigate the feasibility of newborn screening of metachromatic leukodystrophy (MLD). Apart from these biochemical assays for screening purposes, a high-performance diagnostic test for MLD was developed. To better understand the clinical outcomes of the MLD-related variants, a transient gene expression system was designed to study these variants systematically.

Endocrine Disrupting Chemicals induced Metabolic Disorders and Treatment Strategies

Endocrine Disrupting Chemicals induced Metabolic Disorders and Treatment Strategies Book
Author : Anonim
Publisher : Springer Nature
Release : 2021
ISBN : 3030459233
Language : En, Es, Fr & De

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Book Description :

This volume offers a detailed and comprehensive analysis of Endocrine Disrupting Chemicals (EDCs), covering their occurrence, exposure to humans and the mechanisms that lead to the parthogenesis of EDCs-induced metabolic disorders. The book is divided into three parts. Part I describes the physiology of the human endocrine system, with special emphasis on various types of metabolic disorders along with risk factors that are responsible for the development of these disorders. Part II addresses all aspects of EDCs, including their role in the induction of various risk factors that are responsible for the development of metabolic disorders. Part III covers up-to-date environmental regulatory considerations and treatment strategies that have been adopted to cure and prevent EDCs-induced metabolic disorders. This section will primarily appeal to clinicians investigating the causes and treatment of metabolic disorders. The text will also be of interest to students and researchers in the fields of Environmental Pharmacology and Toxicology, Environmental Pollution, Pharmaceutical Biochemistry, Biotechnology, and Drug Metabolism/Pharmacokinetics.

Kidney Biomarkers

Kidney Biomarkers Book
Author : Seema S. Ahuja,Brian Castillo
Publisher : Academic Press
Release : 2020-07-16
ISBN : 0128163747
Language : En, Es, Fr & De

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Book Description :

Since laboratory testing and biomarkers are an integral part in the diagnosis and treatment of kidney disease, Kidney Biomarkers: Clinical Aspects and Laboratory Determination covers currently used biomarkers as well as markers that are in development. Laboratories are increasingly more involved in the follow-up confirmatory laboratory testing and this unique volume showcases the collaboration needed to solve diagnostic clinical puzzles between the laboratory and clinician. This volume provides guidance on laboratory test selection and results interpretation in patients. Sources of inaccurate results in the measurement of kidney biomarkers are discussed along with possibility of eliminating such interferences. Each chapter is organized with a uniform easy-to-follow format with insightful case examples highlighting the collaboration between clinical laboratorians and clinicians. Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Include case examples to show the collaboration between the clinical laboratorian and clinician Discusses the application of kidney biomarkers in clinical practice along with addressing laboratory aspects of kidney biomarker determination

Pattern Recognition in Bioinformatics

Pattern Recognition in Bioinformatics Book
Author : Madhu Chetty,Alioune Ngom,Shandar Ahmad
Publisher : Springer Science & Business Media
Release : 2008-09-29
ISBN : 3540884343
Language : En, Es, Fr & De

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Book Description :

In the post-genomic era, a holistic understanding of biological systems and p- cesses,inalltheircomplexity,is criticalincomprehendingnature’schoreography of life. As a result, bioinformatics involving its two main disciplines, namely, the life sciences and the computational sciences, is fast becoming a very promising multidisciplinary research ?eld. With the ever-increasing application of lar- scalehigh-throughputtechnologies,suchasgeneorproteinmicroarraysandmass spectrometry methods, the enormous body of information is growing rapidly. Bioinformaticians are posed with a large number of di?cult problems to solve, arising not only due to the complexities in acquiring the molecular infor- tion but also due to the size and nature of the generated data sets and/or the limitations of the algorithms required for analyzing these data. Although the ?eld of bioinformatics is still in its embryonic stage, the recent advancements in computational and information-theoretic techniques are enabling us to c- ductvariousinsilicotestingandscreeningofmanylab-basedexperimentsbefore these are actually performed in vitro or in vivo. These in silico investigations are providing new insights for interpretation and establishing a new direction for a deeper understanding. Among the various advanced computational methods currently being applied to such studies, the pattern recognition techniques are mostly found to be at the core of the whole discovery process for apprehending the underlying biological knowledge. Thus, we can safely surmise that the - going bioinformatics revolution may, in future, inevitably play a major role in many aspects of medical practice and/or the discipline of life sciences.

Brain Damage

Brain Damage Book
Author : Alina Gonzalez-Quevedo
Publisher : IntechOpen
Release : 2012-03-16
ISBN : 9789535103752
Language : En, Es, Fr & De

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Book Description :

"Brain Damage - Bridging Between Basic Research and Clinics" represents a collection of papers in an attempt to provide an up-to-date approach to the fascinating topic of brain damage in different pathological situations, combining the authors' personal experiences with current knowledge in this field. In general, the necessary link between basic and clinical neurosciences is highlighted, as it is through this interaction that the theoretical understanding of the pathophysiological mechanisms can be successfully translated into better ways to diagnose, treat and prevent the catastrophic events that occur when the brain suffers from external or internal noxious events. The book spans different aspects of brain injury, starting from damage occurring in the fetal and child brain, followed by different neurodegenerative processes. Attention is also focused on the negative effects of drug addictions and sleep deprivation on the brain, as well as on the early assessment of brain injury for preventive strategies employing sensitive biomarkers.

Accurate Results in the Clinical Laboratory

Accurate Results in the Clinical Laboratory Book
Author : Amitava Dasgupta,Jorge L. Sepulveda
Publisher : Elsevier
Release : 2019-07-20
ISBN : 0128137770
Language : En, Es, Fr & De

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Book Description :

Accurate Results in the Clinical Laboratory: A Guide to Error Detection and Correction, Second Edition, provides a comprehensive review of the factors leading to errors in all areas of clinical laboratory testing. This trusted guide addresses interference issues in all laboratory tests, including patient epigenetics, processes of specimen collection, enzymes and biomarkers. Clinicians and laboratory scientists will both benefit from this reference that applies discussions to both accurate specimen analysis and optimal patient care. Hence, this is the perfect reference for clinical laboratorians, from trainees, to experienced pathologists and directors. Provides comprehensive coverage across endocrine, oncology, hematology, immunohistochemistry, immunology, serology, microbiology, and molecular testing Includes new case studies that highlight clinical relevance and errors to avoid Highlights the best titles published within a variety of medical specialties Reviewed by medical librarians and content specialists, with key selections compiled in their annual list

Advances in Clinical Chemistry

Advances in Clinical Chemistry Book
Author : Gregory S. Makowski
Publisher : Academic Press
Release : 2020-01-10
ISBN : 0128208015
Language : En, Es, Fr & De

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Book Description :

Advances in Clinical Chemistry, Volume 94, the latest installment in this internationally acclaimed series, contains chapters authored by world-renowned clinical laboratory scientists, physicians and research scientists. The serial discusses the latest technologies relating to the field of clinical chemistry, with specific chapters in this new release covering Hypertensive disorders of pregnancy: Strategy to develop clinical peptide biomarkers for more accurate evaluation of the pathophysiological status of this syndrome, Clotting factors - Clinical biochemistry and their roles as plasma enzymes, Myokines: The endocrine coupling of skeletal muscle and bone, Epigenetic reprogramming and potential application of epigenetic-modifying drugs in acquired chemotherapeutic resistance, and more. Provides the most up-to-date technologies in clinical chemistry and clinical laboratory science Authored by world renowned clinical laboratory scientists, physicians and research scientists Presents the international benchmark for novel analytical approaches in the clinical laboratory

Biomarkers

Biomarkers Book
Author : Vishal S. Vaidya,Joseph V. Bonventre
Publisher : John Wiley & Sons
Release : 2010-10-05
ISBN : 0470452242
Language : En, Es, Fr & De

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Book Description :

This book provides an introduction to the field of biomarkers, how they have been and can be used, and how different approaches can be used to identify, characterize, and monitor biomarkers. The book has chapters on topics including HIV, Cancer, Parkinson’s, vascular injury, environmental exposure. A following section discusses the technologies (diagnostics and assays) to detect biomarkers and authors have emphasized the preclinical and clinical manifestation of the injury/disease process.

Quantitative Proteomics by Mass Spectrometry

Quantitative Proteomics by Mass Spectrometry Book
Author : Salvatore Sechi
Publisher : Humana Press
Release : 2010-12-09
ISBN : 9781617376481
Language : En, Es, Fr & De

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Book Description :

This volume is a compendium of cutting-edge protocols for quantitative proteomics, and presents the most significant methods used in the field today. The focus on mass spectrometry (MS) is integral. Attention is given to state-of-the-art techniques for the characterization of the phosphoproteome and tandem MS for detection of inborn errors of metabolism. This volume is an indispensable resource in the search for novel biomarkers.

Capillary Electrophoresis Mass Spectrometry for Metabolomics

Capillary Electrophoresis   Mass Spectrometry for Metabolomics Book
Author : Rawi Ramautar
Publisher : Royal Society of Chemistry
Release : 2018-07-13
ISBN : 178801104X
Language : En, Es, Fr & De

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Book Description :

Capillary electrophoresis–mass spectrometry (CE-MS) has become a very useful analytical technique for the profiling of highly polar and charged metabolites in biological samples. In this book, the unique features of CE-MS for metabolomics studies are highlighted including CE separation modes, capillary coatings and practical aspects of CE-MS coupling alongside a comprehensive overview of recent technological developments and applications. CE-MS can be considered a relatively new technique in the field of metabolomics and it is therefore important to inform the scientific community about the possibilities of advanced CE-MS approaches for metabolomics studies. This book outlines the potential of this technique for researchers working in metabolomics, bioanalytics and biomarker analysis.

Biocomputing 2020 Proceedings Of The Pacific Symposium

Biocomputing 2020   Proceedings Of The Pacific Symposium Book
Author : Altman Russ B,Dunker A Keith,Hunter Lawrence,Ritchie Marylyn D,Murray Tiffany A,Klein Teri E
Publisher : World Scientific
Release : 2019-11-28
ISBN : 9811215642
Language : En, Es, Fr & De

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Book Description :

The Pacific Symposium on Biocomputing (PSB) 2020 is an international, multidisciplinary conference for the presentation and discussion of current research in the theory and application of computational methods in problems of biological significance. Presentations are rigorously peer reviewed and are published in an archival proceedings volume. PSB 2020 will be held on January 3 -7, 2020 in Kohala Coast, Hawaii. Tutorials and workshops will be offered prior to the start of the conference.PSB 2020 will bring together top researchers from the US, the Asian Pacific nations, and around the world to exchange research results and address open issues in all aspects of computational biology. It is a forum for the presentation of work in databases, algorithms, interfaces, visualization, modeling, and other computational methods, as applied to biological problems, with emphasis on applications in data-rich areas of molecular biology.The PSB has been designed to be responsive to the need for critical mass in sub-disciplines within biocomputing. For that reason, it is the only meeting whose sessions are defined dynamically each year in response to specific proposals. PSB sessions are organized by leaders of research in biocomputing's 'hot topics.' In this way, the meeting provides an early forum for serious examination of emerging methods and approaches in this rapidly changing field.

Quantitative Proteomics by Mass Spectrometry

Quantitative Proteomics by Mass Spectrometry Book
Author : Salvatore Sechi
Publisher : Humana Press
Release : 2007-02-05
ISBN : 9781588295712
Language : En, Es, Fr & De

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Book Description :

This volume is a compendium of cutting-edge protocols for quantitative proteomics, and presents the most significant methods used in the field today. The focus on mass spectrometry (MS) is integral. Attention is given to state-of-the-art techniques for the characterization of the phosphoproteome and tandem MS for detection of inborn errors of metabolism. This volume is an indispensable resource in the search for novel biomarkers.

Endogenous Toxins

Endogenous Toxins Book
Author : Peter J. O'Brien,William Robert Bruce
Publisher : John Wiley & Sons
Release : 2009-12-02
ISBN : 3527323635
Language : En, Es, Fr & De

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Book Description :

Designed as a first-stop reference for researchers and professionals in toxicology, pharmacology and medicine, this handbook is the very first to tie together the knowledge from many disciplines that has so far been available only from widely dispersed sources in the primary literature. As such, it presents the complete picture on what is currently known about endogenous toxins, including their generation, mode of action, resulting disease condition, and available countermeasures. Clearly divided into four parts, the first systematically covers important toxic molecule species, including metabolic intermediates and reactive oxygen species. The second discusses the role of genetically determined metabolic malfunctions, such as galactosemia, hyperlipidemia, porphyria, hemochromatosis and related conditions, while part three looks at acquired and chronic diseases caused or exacerbated by endogenous toxins, such as hepatic injury, asthma, rheumatism, colorectal cancer, reperfusion diseases, neurodegneration and aging. The final part reviews currents strategies to control and minimize the effect of endogenous toxins, either by nutritional or pharmacological interventions. With its complete coverage integrating molecular and systemic aspects from the biochemical basis to human disease conditions, this comprehensive reference will appeal to a broad target group of toxicologists, biochemists, nutrition specialists and physicians.

Biomarker Methods in Drug Discovery and Development

Biomarker Methods in Drug Discovery and Development Book
Author : Feng Wang
Publisher : Springer Science & Business Media
Release : 2008-03-11
ISBN : 1934115231
Language : En, Es, Fr & De

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Book Description :

In this book, expert researchers provide a tool box for those who have a general interest in biomarker research and for those currently specializing in certain technologies but desiring an understanding of other available methodologies. Its chapters include validated, mature methods as well as new, incredibly promising protocols. This book is the perfect biomarker technical guideline and reference to stimulate more exciting biomarker research and technology development.

Targeted Biomarker Quantitation by LC MS

Targeted Biomarker Quantitation by LC MS Book
Author : Naidong Weng,Wenying Jian
Publisher : John Wiley & Sons
Release : 2017-07-10
ISBN : 1119413052
Language : En, Es, Fr & De

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Book Description :

The first book to offer a blueprint for overcoming the challenges to successfully quantifying biomarkers in living organisms The demand among scientists and clinicians for targeted quantitation experiments has experienced explosive growth in recent years. While there are a few books dedicated to bioanalysis and biomarkers in general, until now there were none devoted exclusively to addressing critical issues surrounding this area of intense research. Target Biomarker Quantitation by LC-MS provides a detailed blueprint for quantifying biomarkers in biological systems. It uses numerous real-world cases to exemplify key concepts, all of which were carefully selected and presented so as to allow the concepts they embody to be easily expanded to future applications, including new biomarker development. Target Biomarker Quantitation by LC-MS primarily focuses on the assay establishment for biomarker quantitation—a critical issue rarely treated in depth. It offers comprehensive coverage of three core areas of biomarker assay establishment: the relationship between the measured biomarkers and their intended usage; contemporary regulatory requirements for biomarker assays (a thorough understanding of which is essential to producing a successful and defendable submission); and the technical challenges of analyzing biomarkers produced inside a living organism or cell. Covers the theory of and applications for state-of-the-art mass spectrometry and chromatography and their applications in biomarker analysis Features real-life examples illustrating the challenges involved in target biomarker quantitation and the innovative approaches which have been used to overcome those challenges Addresses potential obstacles to obtain effective biomarker level and data interpretation, such as specificity establishment and sample collection Outlines a tiered approach and fit-for-purpose assay protocol for target biomarker quantitation Highlights the current state of the biomarker regulatory environment and protocol standards Target Biomarker Quantitation by LC-MS is a valuable resource for bioanalytical scientists, drug metabolism and pharmacokinetics scientists, clinical scientists, analytical chemists, and others for whom biomarker quantitation is an important tool of the trade. It also functions as an excellent text for graduate courses in pharmaceutical, biochemistry and chemistry.

Metabolomics for Biomedical Research

Metabolomics for Biomedical Research Book
Author : Jerzy Adamski
Publisher : Academic Press
Release : 2020-03-20
ISBN : 0128127856
Language : En, Es, Fr & De

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Book Description :

Metabolomics for Biomedical Research brings together recent progress on study design, analytics, biostatistics and bioinformatics for the success of metabolomics research. Metabolomics represents a very interdisciplinary research prominent in the functional analyses of living systems; hence, this book focuses on translation and medical aspects. The book discusses topics such as biomarkers and their requirements to be used in medical research, with the parameters and approaches on how to validate their quality; and animal models and other approaches, as stem cells and organoid culture. Additionally, it explains how metabolomics may be applied in prediction of individual response to drug or disease progression. This book is a valuable source for researchers on systems biology and other members of biomedical field interested in metabolism-oriented studies for medical research. Focuses on metabolomics in translational and medical research Provides basics for, and concepts of, contemporary translational personalized medicine research with metabolomics Brings the major recent progresses on design, analytics, biostatistics and bioinformatics relating to the success of metabolomics research

Cardiac Biomarkers in Clinical Practice

Cardiac Biomarkers in Clinical Practice Book
Author : James L. Januzzi
Publisher : Jones & Bartlett Learning
Release : 2011
ISBN : 0763761613
Language : En, Es, Fr & De

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Book Description :

Cardiac Biomarkers in Clinical Practice was just honored with 4 Stars from Doody's Book Review! Cardiac Biomarkers in Clinical Practice presents a case based approach to biomarkers in heart diseases including heart failure, ischemic heart disease, and outpatient. Divided into six sections, this book provides physicians and other health care providers with a clear understanding of the role of biomarkers in clinical cardiovascular medicine.

The Handbook of Neuropsychiatric Biomarkers Endophenotypes and Genes

The Handbook of Neuropsychiatric Biomarkers  Endophenotypes and Genes Book
Author : Michael Ritsner
Publisher : Springer Science & Business Media
Release : 2009-04-21
ISBN : 1402094647
Language : En, Es, Fr & De

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Book Description :

Neuropsychiatric disorders such as schizophrenia, mood disorders, Alzheimer’s disease, epilepsy, alcoholism, substance abuse and others are some of the most debilitating illnesses worldwide characterizing by the complexity of the causes, and lacking the laboratory tests that may promote diagnostic and prognostic procedures. Recent advances in neuroscience, genomic, genetic, proteomic and metabolomic knowledge and technologies have opened the way to searching biomarkers and endophenotypes, which may offer powerful and exciting opportunity to understand the etiology and the underlying pathophysiological mechanisms of neuropsychiatric disorders. The challenge now is to translate these advances into meaningful diagnostic and therapeutic advances. This book offers a broad synthesis of the current knowledge about diverse topics of the biomarker and endophenotype strategies in neuropsychiatry. The book is organized into four interconnected volumes: “Neuropsychological Endophenotypes and Biomarkers” (with overview of methodological issues of the biomarker and endophenotype approaches in neuropsychiatry and some technological advances), “Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers”, “Metabolic and Peripheral Biomarkers” and “Molecular Genetic and Genomic Markers”. The contributors are internationally and nationally recognized researchers and experts from 16 countries. This four-volume handbook is intended for a broad spectrum of readers including neuroscientists, psychiatrists, neurologists, endocrinologists, pharmacologists, clinical psychologists, general practitioners, geriatricians, health care providers in the field of neurology and mental health interested in trends that have crystallized in the last decade, and trends that can be expected to further evolve in the coming years. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, psychology and mental health.

The Handbook of Biomarkers

The Handbook of Biomarkers Book
Author : Kewal K. Jain
Publisher : Humana Press
Release : 2017-09-16
ISBN : 1493974319
Language : En, Es, Fr & De

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Book Description :

Involved in nearly every therapeutic area, particularly cancer, biomarkers have experienced tremendous advances since the first edition of this book, both in the discovery of biomarkers and in their applications. To aid in this imperative research, Prof. Kewal K. Jain’s Handbook of Biomarkers, Second Edition features a full revision and additional chapters to thoroughly describe many different types of biomarkers and their discovery using various "-omics" technologies, along with the background information needed for the evaluation of biomarkers as well as the essential procedures for their validation and use in clinical trials. With biomarkers described first according to technologies and then according to various diseases, this detailed book features the key correlations between diseases and classifications of biomarkers, which provides the reader with a guide to sort out current and future biomarkers. Comprehensive and cutting-edge, The Handbook of Biomarkers, Second Edition serves as a vital guide to furthering our understanding of biomarkers, which, by facilitating the combination of therapeutics with diagnostics, promise to play an important role in the development of personalized medicine, one of the most important trends in healthcare today.