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Books > Medicine > Pre-clinical medicine: basic sciences > Physiology > Metabolism
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Biomarkers in Inborn Errors of Metabolism - Clinical Aspects and Laboratory Determination (Hardcover)
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Biomarkers in Inborn Errors of Metabolism - Clinical Aspects and Laboratory Determination (Hardcover)
Series: Clinical Aspects and Laboratory Determination
Expected to ship within 12 - 19 working days
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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 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
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