Biomarkers 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 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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  • Author : Uttam Garg
  • Publisher : Elsevier
  • Pages : 476 pages
  • ISBN : 0128029188
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKBiomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism
  • Author : Uttam Garg,Laurie D. Smith
  • Publisher : Elsevier
  • Release : 07 June 2017
GET THIS 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

Inborn Metabolic Diseases

Inborn Metabolic Diseases
  • Author : John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
  • Publisher : Springer Science & Business Media
  • Release : 14 March 2013
GET THIS 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

Metabolomics

Metabolomics
  • Author : Jeevan Prasain
  • Publisher : BoD – Books on Demand
  • Release : 28 December 2016
GET THIS BOOKMetabolomics

Metabolomics: Fundamentals and Applications authoritatively presents the basic principles and applications of metabolomics. Topics covered in this book range from the analysis of metabolites from different biological sources and their data processing and statistical analysis. This book serves as a basic guide for a wide range of audiences from less familiar with metabolomics techniques to more experienced researchers seeking to understand complex biological systems from the systems biology approach.

25 Years of p53 Research

25 Years of p53 Research
  • Author : Pierre Hainaut,Klas G. Wiman
  • Publisher : Springer Science & Business Media
  • Release : 26 October 2007
GET THIS BOOK25 Years of p53 Research

p53 has emerged as a key tumor suppressor and important target for novel cancer therapy. This book, written by world-leading p53 researchers including many of those who have shaped the field over the past 25 years, provides unique insights into the progress of the field and the prospects for better cancer diagnosis and therapy in the future.

Clinical Chemistry, Immunology and Laboratory Quality Control

Clinical Chemistry, Immunology and Laboratory Quality Control
  • Author : Amitava Dasgupta,Amer Wahed
  • Publisher : Academic Press
  • Release : 02 December 2013
GET THIS BOOKClinical Chemistry, Immunology and Laboratory Quality Control

All pathology residents must have a good command of clinical chemistry, toxicology, immunology, and laboratory statistics to be successful pathologists, as well as to pass the American Board of Pathology examination. Clinical chemistry, however, is a topic in which many senior medical students and pathology residents face challenges. Clinical Chemistry, Immunology and Laboratory Quality Control meets this challenge head on with a clear and easy-to-read presentation of core topics and detailed case studies that illustrate the application of clinical chemistry

Fabry Disease

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  • Author : Deborah Elstein,Gheona Altarescu,Michael Beck
  • Publisher : Springer Science & Business Media
  • Release : 02 August 2010
GET THIS 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

Toxicology Cases for the Clinical and Forensic Laboratory

Toxicology Cases for the Clinical and Forensic Laboratory
  • Author : Hema Ketha,Uttam Garg
  • Publisher : Academic Press
  • Release : 20 June 2020
GET THIS BOOKToxicology Cases for the Clinical and Forensic Laboratory

Toxicology Cases for the Clinical and Forensic Laboratory brings together carefully selected case studies to teach important principles relating to drug and toxin exposures. Each case study includes contemporary clinical and forensic toxicologist studies that include a comprehensive analytical and clinical approach to patient management and address overdoses from designer drugs, to NSAIDS, to opioids, to stimulants. These cases present a comprehensive, analytical and clinical approach to managing a drug overdose. This is a must-have reference for clinical and forensic

Advances in Clinical Chemistry

Advances in Clinical Chemistry
  • Author : Gregory S. Makowski
  • Publisher : Academic Press
  • Release : 27 February 2020
GET THIS BOOKAdvances in Clinical Chemistry

Advances in Clinical Chemistry, Volume 95, 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 and most up-to-date technologies related to the field of clinical chemistry, with this new release including sections on Advances in diagnostic microfluidics, Vascular and valvular calcification biomarkers, Long noncoding RNAs in cancer: From discovery to therapeutic targets, Exosomes of male reproduction, Tryptophan in health and disease, Biochemistry of blood platelet

Examining Special Nutritional Requirements in Disease States

Examining Special Nutritional Requirements in Disease States
  • Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Food and Nutrition Board
  • Publisher : National Academies Press
  • Release : 22 September 2018
GET THIS BOOKExamining Special Nutritional Requirements in Disease States

The amount of nutrients required by an individual is determined by a number of physiological processes, including absorption, metabolism, stability, and bio-activation. These processes determine nutrient needs and provide variations in requirements in the population. All have modifiers and sensitizers, such as sex, genetics, pregnancy, age, pharmaceuticals, toxins, food matrix, and epigenetics. Disease can also be a major modifier of these processes. In April 2018, the National Academies of Science, Engineering and Medicine convened a workshop in order to explore the

Neonatal Screening for Inborn Errors of Metabolism

Neonatal Screening for Inborn Errors of Metabolism
  • Author : H. Bickel,R. Guthrie,G. Hammersen
  • Publisher : Springer Science & Business Media
  • Release : 06 December 2012
GET THIS BOOKNeonatal Screening for Inborn Errors of Metabolism

Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions

The Handbook of Metabonomics and Metabolomics

The Handbook of Metabonomics and Metabolomics
  • Author : John C. Lindon,Jeremy K. Nicholson,Elaine Holmes
  • Publisher : Elsevier
  • Release : 11 August 2011
GET THIS BOOKThe Handbook of Metabonomics and Metabolomics

Molecular biology operates at three levels – genes, proteins and metabolites. This book is unique in that it provides a comprehensive description of an approach (metabonomics) to characterise the endogenous metabolites in a living system, complementing gene and protein studies (genomics and proteomics). These "omics" methods form the basis for understanding biology at a systems level. The Handbook of Metabonomics and Metabolomics aims to be the definitive work on the rapidly expanding subjects of metabolic profiling, metabolite and biomarker identification, encompassing

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Advances in Nephropathy
  • Author : Thomas Rath
  • Publisher : BoD – Books on Demand
  • Release : 24 October 2018
GET THIS 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

Methodologies for Metabolomics

Methodologies for Metabolomics
  • Author : Norbert W. Lutz,Jonathan V. Sweedler,Ron A. Wevers
  • Publisher : Cambridge University Press
  • Release : 21 January 2013
GET THIS BOOKMethodologies for Metabolomics

Metabolomics, the global characterisation of the small molecule complement involved in metabolism, has evolved into a powerful suite of approaches for understanding the global physiological and pathological processes occurring in biological organisms. The diversity of metabolites, the wide range of metabolic pathways and their divergent biological contexts require a range of methodological strategies and techniques. Methodologies for Metabolomics provides a comprehensive description of the newest methodological approaches in metabolomic research. The most important technologies used to identify and quantify metabolites,

Maximize Your Metabolism

Maximize Your Metabolism
  • Author : Noel Maclaren,Sunita Singh Maclaren
  • Publisher : Grand Central Publishing
  • Release : 13 April 2021
GET THIS BOOKMaximize Your Metabolism

In Maximize Your Metabolism Dr. Maclaren shares a brand new program based on cutting-edge science about how to use your body's response to insulin to boost your metabolism and easily achieve unprecedented good health. Each of us fits into one of five different body types, based on our bodies' level of insulin resistance (the book includes an easy self-assessment quiz for readers to identify their type). Maximize Your Metabolism offers unique diet and exercises plans tailored for each of the