Biomarkers in Inborn Errors of Metabolism Book

Biomarkers in Inborn Errors of Metabolism

  • Author : Uttam Garg
  • Publisher : Elsevier
  • Release Date : 2017-06-07
  • Genre: Medical
  • Pages : 476
  • ISBN 10 : 9780128029183

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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

Nutrition Management of Inherited Metabolic Diseases Book

Nutrition Management of Inherited Metabolic Diseases

  • Author : Laurie E. Bernstein
  • Publisher : Springer Nature
  • Release Date : 2022-07-16
  • Genre: Medical
  • Pages : 428
  • ISBN 10 : 9783030945107

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This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are also addressed. In addition, current medical management therapies is included.

Physician s Guide to the Diagnosis  Treatment  and Follow Up of Inherited Metabolic Diseases Book

Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases

  • Author : Nenad Blau
  • Publisher : Springer Nature
  • Release Date : 2022-02-21
  • Genre: Medical
  • Pages : 1514
  • ISBN 10 : 9783030677275

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This updated and enlarged second edition 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 clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via

JIMD Reports  Volume 24 Book

JIMD Reports Volume 24

  • Author : Johannes Zschocke
  • Publisher : Springer
  • Release Date : 2015-09-24
  • Genre: Medical
  • Pages : 128
  • ISBN 10 : 9783662482278

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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Biomarkers Book


  • Author : Vishal S. Vaidya
  • Publisher : John Wiley & Sons
  • Release Date : 2010-10-05
  • Genre: Science
  • Pages : 646
  • ISBN 10 : 9780470452240

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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.

Metabolomics Book


  • Author : Ron Wehrens
  • Publisher : CRC Press
  • Release Date : 2019-08-19
  • Genre: Mathematics
  • Pages : 276
  • ISBN 10 : 9781498725279

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Metabolomics is the scientific study of the chemical processes in a living system, environment and nutrition. It is a relatively new omics science, but the potential applications are wide, including medicine, personalized medicine and intervention studies, food and nutrition, plants, agriculture and environmental science. The topics presented and discussed in this book are based on the European Molecular Biology Organization (EMBO) practical courses in metabolomics bioinformatics taught to those working in the field, from masters to postgraduate students, PhDs, postdoctoral and early PIs. The book covers the basics and fundamentals of data acquisition and analytical technologies, but the primary focus is data handling and data analysis. The mentioning and usage of a particular data analysis tool has been avoided; rather, the focus is on the concepts and principles of data processing and analysis. The material has been class-tested and includes lots of examples, computing and exercises. Key Features: Provides an overview of qualitative /quantitative methods in metabolomics Offers an introduction to the key concepts of metabolomics, including experimental design and technology Covers data handling, processing, analysis, data standards and sharing Contains lots of examples to illustrate the topics Includes contributions from some of the leading researchers in the field of metabolomics with extensive teaching experiences

Genetics Meets Metabolomics Book

Genetics Meets Metabolomics

  • Author : Karsten Suhre
  • Publisher : Springer Science & Business Media
  • Release Date : 2012-06-15
  • Genre: Medical
  • Pages : 328
  • ISBN 10 : 9781461416890

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This book is written by leading researchers in the fields about the intersection of genetics and metabolomics which can lead to more comprehensive studies of inborn variation of metabolism.

Pattern Recognition in Bioinformatics Book

Pattern Recognition in Bioinformatics

  • Author : Madhu Chetty
  • Publisher : Springer Science & Business Media
  • Release Date : 2008-09-29
  • Genre: Science
  • Pages : 488
  • ISBN 10 : 9783540884347

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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.

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

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

  • Author : Xinying Hong
  • Publisher : Unknown
  • Release Date : 2020
  • Genre: Uncategoriezed
  • Pages : 132
  • ISBN 10 : OCLC:1196344117

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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.

Metabolomics Perspectives Book

Metabolomics Perspectives

  • Author : Jacopo Troisi
  • Publisher : Academic Press
  • Release Date : 2022-03-15
  • Genre: Science
  • Pages : 684
  • ISBN 10 : 9780323850636

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Metabolomics Perspectives: From Theory to Practical Application is an expertly written volume, which provides a thorough description of the current state-of-the-art in the metabolomics field. The philosophy behind the book is to guide the reader in a step-by-step exploration of metabolomics experiments, ranging from sample preparation to data extraction, analysis and interpretation, and to discuss the main current applications and future perspectives of this emerging science. Armed with critical insights, coupled with a clear writing, the book consists of three main sections. The first one introduces the pivotal theoretical fundamentals and provides a comprehensive overview of the "wet" laboratory workflow, including protocol instructions and a detailed description of experimental methods and analytical techniques. The second section covers a wide range of topics in the context of data analysis, including guidance in exploratory analysis, supervised and unsupervised machine learning approaches and validation and optimization methods. In addition to the several examples reported in the text, the book features an R package, specifically designed to perform all the described algorithms, which is hosted on a companion website ( together with several sets of available metabolomic data. Finally, an extensive dissertation describes the latest advances and the major fields of interest for metabolomics applications, highlighting their crucial potentials for future biomedical research. Thus, this book represents a must-read for both experienced researchers, interested in metabolomics, and newcomers to the field. • Provides an in-depth description of the metabolomics experimental workflow and its applications in life science and biomedical research • Features chapter contributions from the greatest international experts in the field • Includes an R package and several sets of metabolomics data, hosted on a companion website

General Methods in Biomarker Research and their Applications Book

General Methods in Biomarker Research and their Applications

  • Author : Victor R. Preedy
  • Publisher : Springer
  • Release Date : 2015-08-14
  • Genre: Medical
  • Pages : 0
  • ISBN 10 : 9400776950

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In the past decade there has been a major sea change in the way disease is diagnosed and investigated due to the advent of high throughput technologies, such as microarrays, lab on a chip, proteomics, genomics, lipomics, metabolomics etc. These advances have enabled the discovery of new and novel markers of disease relating to autoimmune disorders, cancers, endocrine diseases, genetic disorders, sensory damage, intestinal diseases etc. In many instances these developments have gone hand in hand with the discovery of biomarkers elucidated via traditional or conventional methods, such as histopathology or clinical biochemistry. Together with microprocessor-based data analysis, advanced statistics and bioinformatics these markers have been used to identify individuals with active disease or pathology as well as those who are refractory or have distinguishing pathologies. New analytical methods that have been used to identify markers of disease and is suggested that there may be as many as 40 different platforms. Unfortunately techniques and methods have not been readily transferable to other disease states and sometimes diagnosis still relies on single analytes rather than a cohort of markers. There is thus a demand for a comprehensive and focused evidenced-based text and scientific literature that addresses these issues. Hence the formulation of Biomarkers in Disease. The series covers a wide number of areas including for example, nutrition, cancer, endocrinology, cardiology, addictions, immunology, birth defects, genetics and so on. The chapters are written by national or international experts and specialists.

The Handbook of Neuropsychiatric Biomarkers  Endophenotypes and Genes Book

The Handbook of Neuropsychiatric Biomarkers Endophenotypes and Genes

  • Author : Michael Ritsner
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-04-21
  • Genre: Medical
  • Pages : 273
  • ISBN 10 : 9781402094644

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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.

Advances in Nephropathy Book

Advances in Nephropathy

  • Author : Thomas Rath
  • Publisher : BoD – Books on Demand
  • Release Date : 2018-10-24
  • Genre: Medical
  • Pages : 216
  • ISBN 10 : 9781789842357

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Chronic kidney disease (CKD) is a world-wide known disease affecting up to 4% of the population with increasing figures in developing countries. Life expectancy of patients affected by CKD is shortened compared to the overall population and only a minority of patients reach end stage renal disease (ESRD) with the need for dialysis or renal transplantation; death overtakes dialysis. In nine chapters, this book focuses on different aspects related to the pathophysiology and clinical aspects of CKD, providing interesting insights into new and old biomarkers, allowing us to increase diagnostic and prognostic meaningfulness. In addition, chapters deal with new developments in glomerulopathies, but also aspects of the "tubulocentric" shift will be beneficial for the open-minded reader. Nevertheless, new insights into chronic kidney disease (CKD) and acute kidney injury (AKI) are provided.

Targeted Biomarker Quantitation by LC MS Book

Targeted Biomarker Quantitation by LC MS

  • Author : Naidong Weng
  • Publisher : John Wiley & Sons
  • Release Date : 2017-07-05
  • Genre: Medical
  • Pages : 464
  • ISBN 10 : 9781119413066

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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

The Handbook of Biomarkers Book

The Handbook of Biomarkers

  • Author : Kewal K. Jain
  • Publisher : Humana Press
  • Release Date : 2017-09-16
  • Genre: Science
  • Pages : 760
  • ISBN 10 : 9781493974313

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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.