Biomarkers in Inborn Errors of Metabolism - Clinical Aspects and Laboratory Determination (Hardcover)

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.

General

Imprint:	Elsevier Science Publishing Co Inc
Country of origin:	United States
Series:	Clinical Aspects and Laboratory Determination
Release date:	June 2017
First published:	2017
Authors:	Uttam Garg • Laurie D. Smith
Dimensions:	235 x 191 x 31mm (L x W x T)
Format:	Hardcover
Pages:	476
ISBN-13:	978-0-12-802896-4
Categories:	Books > Medicine > Pre-clinical medicine: basic sciences > Physiology > Metabolism Books > Medicine > Clinical & internal medicine > Endocrinology > General Promotions
LSN:	0-12-802896-3
Barcode:	9780128028964

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