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

Inherited Metabolic Diseases

Inherited Metabolic Diseases
  • Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
  • Publisher : Springer Science & Business Media
  • Release : 21 November 2009
GET THIS 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.

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

Advances in Clinical Chemistry

Advances in Clinical Chemistry
  • Author : Gregory S. Makowski
  • Publisher : Academic Press
  • Release : 10 January 2020
GET THIS BOOKAdvances in Clinical Chemistry

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

A Quick Guide to Metabolic Disease Testing Interpretation

A Quick Guide to Metabolic Disease Testing Interpretation
  • Author : Patricia Jones,Khushbu Patel,Dinesh Rakheja
  • Publisher : Academic Press
  • Release : 31 July 2020
GET THIS BOOKA Quick Guide to Metabolic Disease Testing Interpretation

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important

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 : 31 May 2008
GET THIS 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.

Clinical Metabolomics

Clinical Metabolomics
  • Author : Martin Giera
  • Publisher : Unknown Publisher
  • Release : 13 April 2021
GET THIS BOOKClinical Metabolomics

This detailed volume presents a comprehensive compendium of clinical metabolomics protocols covering LC-MS, GC-MS, CE-MS, and NMR-based clinical metabolomics as well as bioinformatics and study design considerations. The methodologies explored here form the core of several very promising initiatives evolving around personalized health care and precision medicine, which can be seen as complimentary to the field of clinical chemistry and aid the aforementioned field with novel disease markers and diagnostic patterns. Written for the highly successful Methods in Molecular Biology

Endocrine Biomarkers

Endocrine Biomarkers
  • Author : Hossein Sadrzadeh,Gregory Kline
  • Publisher : Elsevier
  • Release : 25 September 2017
GET THIS BOOKEndocrine Biomarkers

Endocrine Biomarkers: Clinical Aspects and Laboratory Determination covers all the pre-analytical variables that can affect test results, both in the clinic and laboratory. Biomarkers of endocrine and bone diseases are discussed from both clinical and laboratory perspectives, and the authors elaborate on the teamwork-based app+roach between the clinician and the laboratory professional in the diagnosis and management of endocrine and bone disorders. Discussions include test utilization, laboratory measurement methods, harmonization and standardization, interpretation of results, and reference intervals. Each

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

Cancer Metabolomics 2018

Cancer Metabolomics 2018
  • Author : Paula Guedes De Pinho,Márcia Carvalho,Joana Pinto
  • Publisher : MDPI
  • Release : 03 September 2019
GET THIS BOOKCancer Metabolomics 2018

The metabolomics approach, defined as the study of all endogenously-produced low-molecular-weight compounds, appeared as a promising strategy to define new cancer biomarkers. Information obtained from metabolomic data can help to highlight disrupted cellular pathways and, consequently, contribute to the development of new-targeted therapies and the optimization of therapeutics. Therefore, metabolomic research may be more clinically translatable than other omics approaches, since metabolites are closely related to the phenotype and the metabolome is sensitive to many factors. Metabolomics seems promising to

Epileptology

Epileptology
  • Author : Vladimir Kalinin
  • Publisher : BoD – Books on Demand
  • Release : 12 October 2016
GET THIS BOOKEpileptology

Epilepsy seems to represent one of the most frequent neurological diseases and occurs in about 1% of the general population. Although epilepsy is known since antiquity, the precise data on its pathogenesis and effective treatment are still collected and nowadays represents an interest for neurologists and psychiatrists. Being a neurological disease, epilepsy is characterized by a broad palette of comorbid psychiatric disorders (affective and anxiety disorders, psychoses) that reduce the quality of life. Moreover, the risk of suicidal attempts in persons

Genetic Epidemiology of Cancer

Genetic Epidemiology of Cancer
  • Author : Henry T. Lynch,Takeshi Hirayama
  • Publisher : CRC Press
  • Release : 30 June 1989
GET THIS BOOKGenetic Epidemiology of Cancer

This multi-authored book provides a unique accounting of the cancer problem from the standpoint of those primary genetic factors which may be interacting with myriad environmental exposures in cancer etiology. It provides a comprehensive coverage of cancer of all anatomical sites in conjunction with a genetic/environmental thrust. It includes a survey chapter dealing with the role of primary genetic factors in cancer of differing anatomic sites and a similar comprehensive survey chapter tracing the history of epidemiology, with focus

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
  • Author : N. Blau,M. Duran,M.E. Blaskovics,K.M. Gibson
  • Publisher : Springer Science & Business Media
  • Release : 06 December 2012
GET THIS BOOKPhysician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as