Overview
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.
Full Product Details
Author: Uttam Garg (Garg Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO, United States; University of Missouri School of Medicine, Kansas City, MO, United States) ,
Laurie D. Smith (Clinical Geneticist and Clinical Biochemical Geneticist, Associate Professor of Pediatrics, Division of Genetics and Metabolism, University of North Carolina, School of Medicine)
Publisher: Elsevier Science Publishing Co Inc
Imprint: Elsevier Science Publishing Co Inc
Weight: 1.130kg
ISBN: 9780128028964
ISBN 10: 0128028963
Pages: 476
Publication Date: 02 June 2017
Audience:
College/higher education
,
Tertiary & Higher Education
Format: Hardback
Publisher's Status: Active
Availability: Manufactured on demand
We will order this item for you from a manufactured on demand supplier.
Author Information
Dr. Uttam Garg has published over 150 research papers, review articles, and book chapters in the area of clinical biochemistry, therapeutic drug monitoring and toxicology, and Co-Edited a book on Clinical Applications of Mass Spectrometry. His research interests include methods development in clinical laboratory diagnosis. His research interests include clinical method development on a variety of diagnostic platforms including mass spectrometry. He received his Ph.D. in Experimental Medicine from the Postgraduate Institute of Medical Education and Research in India. He received his postdoctoral training in Pharmacology at and Clinical Chemistry at New York Medical College and University of Minnesota Medical School respectively. Before joining his current position, he served as faculty at the NYU Medical Center and the University of Minnesota Medical School. Laurie D. Smith, PhD MD is an Associate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. She is a board certified pediatrician, clinical geneticist, and clinical biochemical geneticist with extensive experience in the diagnosis and management of inborn errors of metabolism. She is currently a member of the Center for Pediatric Genomic Medicine at Children's Mercy-Kansas City. She serves or has served on a number of national, regional and state committees and organization and is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics. She has published numerous research papers and book chapters. She has co-edited one book.
