Dabcc Garg, Laurie D. Smith

Biomarkers in Inborn Errors of Metabolism (eBook, ePUB)

Clinical Aspects and Laboratory Determination

• Format: ePub

Produktbeschreibung

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.

• Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens
• Categorizes biomarkers into diagnostic markers, disease follow-up 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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Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 476
• Erscheinungstermin: 7. Juni 2017
• Englisch
• ISBN-13: 9780128029183
• Artikelnr.: 48261548

Autorenporträt

Dr. Uttam Garg has published over 150 research papers, review articles, and book chapters in the area of clinical biochemistry, therapeutic drug monitoring and toxicology, and Co-Edited a book on Clinical Applications of Mass Spectrometry. His research interests include methods development in clinical laboratory diagnosis. His research interests include clinical method development on a variety of diagnostic platforms including mass spectrometry. He received his Ph.D. in Experimental Medicine from the Postgraduate Institute of Medical Education and Research in India. He received his postdoctoral training in Pharmacology at and Clinical Chemistry at New York Medical College and University of Minnesota Medical School respectively. Before joining his current position, he served as faculty at the NYU Medical Center and the University of Minnesota Medical School.

Inhaltsangabe

1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism2. Amino acid disorders3. Organic acid disorders4. Disorders of mitchondrial fatty acid ß-oxidation5. Urea cycle and other disorders of hyperammonemia6. Newborn screening7. Carbohydrate disorders8. Mitochondrial disorders9. Lysosomal storage disorders: mucopolysaccharidoses10. Lysosomal storage disorders: sphingolipidoses11. Peroxisomal disorders: clinical and biochemical laboratory aspects12. Disorders of purine and pyrimidine metabolism13. Biomarkers for the study of catecholamine and serotonin genetic diseases14. Cerebral creatine deficiency syndromes15. Congenital disorders of glycosylation16. Disorders of vitamins and cofactors17. Disorders of trace metals