Biomarkers In Inborn Errors Of Metabolism: Clinical Aspects And Laboratory Determination (Clinical Aspects And Laboratory Determination Of Biomarkers Series) .2017 PDF

Biomarkers In Inborn Errors Of Metabolism: Clinical Aspects And Laboratory Determination (Clinical Aspects And Laboratory Determination Of Biomarkers Series) .2017 PDF

  • Series: Clinical Aspects and Laboratory Determination of Biomarkers Series
  • Hardcover: 476 pages
  • Publisher: Elsevier; 1 edition (June 15, 2017)
  • Language: English
  • ISBN-10: 0128028963
  • ISBN-13: 978-0128028964
  • Product Dimensions: 7.6 x 1.1 x 9.4 inches

$22.00

Description

Netter’s Atlas of Human Embryology, 2nd Edition, is a comprehensive resource for understanding human prenatal development. Illustrated by the renowned Frank H. Netter, MD and artists in his tradition, this atlas provides a visually stunning overview of each stage of development and every body system. The book includes concise descriptions of the developmental plan, along with key concepts and terminology. It also delves into histological principles, the classification of congenital anomalies, and fundamental cellular, molecular, and genetic concepts.

One of the strengths of this atlas is its emphasis on morphological patterns in the embryo and fetus. By studying these patterns, readers can gain a deeper understanding of the structure and

The structure of Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is centered around the recognition that laboratory testing and biomarkers play a crucial role in the diagnosis and treatment of inherited metabolic diseases. The book encompasses both currently utilized biomarkers and those that are still in the developmental stage. Since the biomarkers used for the initial diagnosis of a disease may differ from those used for follow-up, the book also addresses biomarkers employed in both the prognosis and treatment of inherited metabolic disorders.

With the implementation of expanded newborn screening for inborn metabolic diseases, an increasing number of laboratories are now involved in conducting confirmatory testing. This book offers guidance on selecting appropriate laboratory tests and interpreting the results for patients suspected of having inherited metabolic diseases. It provides comprehensive guidance on patient diagnosis and follow-up, including informative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, as well as essential information on clinical presentation.

Each chapter follows a consistent and easy-to-follow format, beginning with a brief description of the disorder and pathway, followed by a description of the treatment. The chapter then covers biomarkers used for diagnosis, biomarkers monitored for treatment effectiveness, biomarkers monitored for disease progression, confounding conditions that can either affect biomarker expression or mimic inborn errors of metabolism, and other biomarkers that are less established and may be utilized in the future.

The book offers comprehensive information on the selection of tests and biomarkers for newborn screening and the subsequent follow-up of newborn screens. It categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers. Additionally, it covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism and provides guidance on distinguishing acquired causes from inborn errors of metabolism.

 

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Additional information
Language

English

Publisher

Elsevier

Edition

1

Format

PDF

ISBN

978-0128028964

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