Biomarkers in Inborn Errors of Metabolism

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  • Publisher : Elsevier
  • Release : 07 June 2017
  • ISBN : 9780128029183
  • Page : 476 pages
  • Rating : 4.5/5 from 103 voters

Biomarkers in Inborn Errors of Metabolism Book PDF summary

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

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Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism
  • Author : Uttam Garg,Laurie D. Smith
  • Publisher : Elsevier
  • Release Date : 2017-06-07
  • ISBN : 9780128029183
DOWNLOAD BOOKBiomarkers in Inborn Errors of Metabolism

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

Newborn Screening for Inborn Errors of Metabolism

Newborn Screening for Inborn Errors of Metabolism
  • Author : Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel
  • Publisher : Frontiers Media SA
  • Release Date : 2021-10-29
  • ISBN : 9782889715671
DOWNLOAD BOOKNewborn Screening for Inborn Errors of Metabolism

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

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
  • Author : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
  • Publisher : Springer
  • Release Date : 2014-07-08
  • ISBN : 9783642403378
DOWNLOAD BOOKPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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)

Inborn Metabolic Diseases

Inborn Metabolic Diseases
  • Author : K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
  • Publisher : Springer Science & Business Media
  • Release Date : 2013-03-14
  • ISBN : 9783662031476
DOWNLOAD BOOKInborn Metabolic Diseases

Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
  • Author : R. V. Thakker
  • Publisher : Academic Press
  • Release Date : 2013
  • ISBN : 9780123878298
DOWNLOAD BOOKGenetics of Bone Biology and Skeletal Disease

This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment

Biochemical Testing

Biochemical Testing
  • Author : Anonim
  • Publisher : BoD – Books on Demand
  • Release Date : 2020-04-29
  • ISBN : 9781789850857
DOWNLOAD BOOKBiochemical Testing

Clinical Correlation and Diagnosis highlights the improvements in methodological approaches for the purposes of disease diagnosis and health research. Chapters cover such topics as serum protein electrophoresis, urinary iodine measurement, blood collection tubes, semi-solid phase assay and advancement in analytical and bioanalytical techniques, and serological diagnostic tools for Zika virus, among other subjects. All these will not be possible without a proper laboratory management where this book also includes the Tissue Bank ATMP Production as a model. The chapters are

Inherited Metabolic Diseases

Inherited Metabolic Diseases
  • Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-11-21
  • ISBN : 9783540747239
DOWNLOAD BOOKInherited Metabolic Diseases

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index.

Pediatric Laboratory Medicine

Pediatric Laboratory Medicine
  • Author : Patricia M. Jones,Dennis J. Dietzen,Shannon Haymond,Michael J. Bennett
  • Publisher : McGraw Hill Professional
  • Release Date : 2017-05-22
  • ISBN : 9780071839273
DOWNLOAD BOOKPediatric Laboratory Medicine

A complete full-color guide to medical laboratory test selection and test result interpretation for disorders and diagnoses specific to pediatric and neonatal populations Laboratory medicine practiced at a pediatric institution has unique characteristics specific to infants and children, who differ both metabolically and biochemically from adults. Many aspects of laboratory medicine are affected by these differences, from basic, day-to-day operational issues through test selection for pediatric-specific disorders. However, most references in laboratory medicine merely touch upon pediatrics – and offer little

Design Concepts in Nutritional Epidemiology

Design Concepts in Nutritional Epidemiology
  • Author : Barrie M. Margetts,Michael Nelson
  • Publisher : Oxford University Press, USA
  • Release Date : 1997
  • ISBN : 9780192627391
DOWNLOAD BOOKDesign Concepts in Nutritional Epidemiology

In examining the relationship between nutritional exposure and disease etiology, the importance of a carefully considered experimental design cannot be overstated. A sound experimental design involves the formulation of a clear research hypothesis and the identification of appropriate measures of exposure and outcome. It is essential that these variables be measured with a minimum of error, while taking into account the effects of chance and bias, and being aware of the risk of confounding variables. The first edition of Design

Chagas Disease

Chagas Disease
  • Author : Jaime Marcelo Altcheh,Hector Freilij
  • Publisher : Springer Nature
  • Release Date : 2019-09-09
  • ISBN : 9783030000547
DOWNLOAD BOOKChagas Disease

Chagas disease is a potentially life threatening condition that was historically mainly endemic to Latin America. Over the last decade, however, the disease has spread to and is increasingly prevalent in other continents such as North America and Europe, with an estimated 7 million people infected worldwide. It is primarily transmitted by insect vectors that carry the parasite Trypanosoma cruzi, the disease agent. In areas where there is vector control and in non-endemic countries, it is mainly transmitted via congenital infection.

Advances in Nephropathy

Advances in Nephropathy
  • Author : Thomas Rath
  • Publisher : BoD – Books on Demand
  • Release Date : 2018-10-24
  • ISBN : 9781789842357
DOWNLOAD BOOKAdvances in Nephropathy

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

Fabry Disease

Fabry Disease
  • Author : Deborah Elstein,Gheona Altarescu,Michael Beck
  • Publisher : Springer Science & Business Media
  • Release Date : 2010-08-02
  • ISBN : 9789048190331
DOWNLOAD BOOKFabry Disease

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

Targeted Biomarker Quantitation by LC-MS

Targeted Biomarker Quantitation by LC-MS
  • Author : Naidong Weng,Wenying Jian
  • Publisher : John Wiley & Sons
  • Release Date : 2017-07-31
  • ISBN : 9781119103066
DOWNLOAD BOOKTargeted Biomarker Quantitation by LC-MS

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. Targeted Biomarker Quantitation by LC-MS provides a detailed blueprint for quantifying biomarkers in biological systems.

Laboratory Guide to the Methods in Biochemical Genetics

Laboratory Guide to the Methods in Biochemical Genetics
  • Author : Nenad Blau,Marinus Duran,K. Michael Gibson
  • Publisher : Springer Science & Business Media
  • Release Date : 2008-05-31
  • ISBN : 9783540766988
DOWNLOAD BOOKLaboratory Guide to the Methods in Biochemical Genetics

This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

Metabolomics

Metabolomics
  • Author : Ron Wehrens,Reza Salek
  • Publisher : CRC Press
  • Release Date : 2019-08-19
  • ISBN : 9781498725279
DOWNLOAD BOOKMetabolomics

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