Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory Determination,Used

Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory Determination,Used

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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 followup markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.With the introduction of expanded newborn screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in followup 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 followup 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, easytofollow 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 followup of newborn screens Categorizes biomarkers into diagnostic markers, disease followup 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

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