Biomarkers in Inborn Errors of Metabolism : Clinical Aspects and Laboratory Determination
Language: English
Published by Elsevier Science, 2017
- Hardcover
- New
Seller: AHA-BUCH GmbH, Einbeck, GermanyAHA-BUCH GmbH
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nach der Bestellung gedruckt Neuware - Printed after ordering - 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.…
Seller Inventory # 9780128028964
- Title
- Biomarkers in Inborn Errors of Metabolism : Clinical Aspects and Laboratory Determination
- Author
- Laurie D Smith
- Publisher
- Elsevier Science
- Publication year
- 2017
- Condition
- Neu
- Binding
- Buch
- Language
- English
- ISBN 10
- 0128028963
- ISBN 13
- 9780128028964
- Item weight
- 1,089 grams
- Dimensions
- 239x193x28 mm
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
"Synopsis" may belong to another edition of this title.
About the Author
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.
"About the title" may belong to another edition of this title.
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