Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism
Author :
Publisher : Elsevier
Total Pages : 477
Release :
ISBN-10 : 9780128029183
ISBN-13 : 0128029188
Rating : 4/5 (188 Downloads)

Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg

Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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


Biomarkers in Inborn Errors of Metabolism Related Books

Biomarkers in Inborn Errors of Metabolism
Language: en
Pages: 477
Authors: Uttam Garg
Categories: Medical
Type: BOOK - Published: 2017-06-07 - Publisher: Elsevier

GET EBOOK

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomar
Atlas of Inherited Metabolic Diseases
Language: en
Pages: 871
Authors: William L Nyhan
Categories: Medical
Type: BOOK - Published: 2020-07-14 - Publisher: CRC Press

GET EBOOK

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to h
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Language: en
Pages: 880
Authors: Nenad Blau
Categories: Medical
Type: BOOK - Published: 2014-07-08 - Publisher: Springer

GET EBOOK

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
Laboratory Guide to the Methods in Biochemical Genetics
Language: en
Pages: 860
Authors: Nenad Blau
Categories: Medical
Type: BOOK - Published: 2008-05-31 - Publisher: Springer Science & Business Media

GET EBOOK

This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detail
General Methods in Biomarker Research and their Applications
Language: en
Pages: 0
Authors: Victor R. Preedy
Categories: Medical
Type: BOOK - Published: 2015-08-14 - Publisher: Springer

GET EBOOK

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