by Uttam Garg (Author), Laurie D. Smith (Author)

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is a comprehensive guide to the role of biomarkers in the diagnosis and treatment of inherited metabolic diseases. The book provides an in-depth look at both currently used biomarkers and those that are still in development, offering healthcare professionals a complete overview of the field and helping them make informed decisions about patient diagnosis and follow-up.

With the advent of expanded newborn screening for inborn metabolic diseases, more and more laboratories are becoming involved in follow-up confirmatory testing. This book addresses the need for clear guidance on laboratory test selection and interpretation, giving healthcare professionals the tools they need to navigate this complex area. The authors provide detailed information on patient diagnosis and follow-up, including illustrations of metabolic pathways, genetics, and pathogenesis, as well as essential information on clinical presentation.

The book is organized in a clear and easy-to-follow format, with each chapter providing a brief description of the disorder and pathway, a description of treatment, and a comprehensive list of biomarkers used for diagnosis, treatment efficacy, and disease progression. The authors also discuss confounding conditions that can affect biomarker expression or mimic inborn errors of metabolism, helping healthcare professionals differentiate between acquired causes and true metabolic disorders.

One of the strengths of this book is its focus on the selection of biomarkers in newborn screening and follow-up. The authors categorize biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers, providing clear guidelines for healthcare professionals on which markers to use in different clinical scenarios. This ensures that patients receive the most accurate and appropriate testing, leading to more accurate diagnoses and better treatment outcomes.

In addition to its practical guidance on biomarkers, the book also covers the latest developments and future directions in the field. The authors discuss emerging biomarkers that show promise for the diagnosis and treatment of inborn errors of metabolism, providing healthcare professionals with an insight into the future of this rapidly evolving field.

Overall, Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is an essential resource for healthcare professionals involved in the diagnosis and treatment of inherited metabolic diseases. The clear and concise format, along with the comprehensive coverage of biomarkers and their clinical applications, makes this book a valuable tool for any healthcare professional working in this field.

By reading this book, healthcare professionals will gain a deeper understanding of the role of biomarkers in inborn errors of metabolism and how they can be used to improve patient outcomes. Whether you are a laboratory scientist, clinician, or researcher, this book will provide you with the knowledge and tools you need to make informed decisions about biomarker selection and interpretation.

If you are looking to further your knowledge and expertise in the field of inherited metabolic diseases, Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is the book for you. Order your copy today and take your understanding of this complex and important field to the next level.

Product Details

• Series: Clinical Aspects and Laboratory Determination of Biomarkers Series
• eBook Digital: 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