Biomarkers in Inborn Errors of Metabolism

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

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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.
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Product details

  • Hardback | 476 pages
  • 191 x 235 x 27.94mm | 1,130g
  • United States
  • English
  • 0128028963
  • 9780128028964
  • 1,005,770

Table of contents

1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism 2. Amino acid disorders 3. Organic acid disorders 4. Disorders of mitchondrial fatty acid ss-oxidation 5. Urea cycle and other disorders of hyperammonemia 6. Newborn screening 7. Carbohydrate disorders 8. Mitochondrial disorders 9. Lysosomal storage disorders: mucopolysaccharidoses 10. Lysosomal storage disorders: sphingolipidoses 11. Peroxisomal disorders: clinical and biochemical laboratory aspects 12. Disorders of purine and pyrimidine metabolism 13. Biomarkers for the study of catecholamine and serotonin genetic diseases 14. Cerebral creatine deficiency syndromes 15. Congenital disorders of glycosylation 16. Disorders of vitamins and cofactors 17. Disorders of trace metals
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About Uttam Garg

Uttam Garg, Ph.D. is the Director of Clinical Chemistry Laboratories at the Children's Mercy Hospitals and Clinics, and Professor of Pediatrics Pathology at the University of Missouri School of Medicine in Kansas City. He serves or has served on a number of national, regional and local committees and organizations. He has published over 150 research papers, review articles, and book chapters. He has co-edited two books. Laurie D. Smith, PhD MD is an Associate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. She is a board certified pediatrician, clinical geneticist, and clinical biochemical geneticist with extensive experience in the diagnosis and management of inborn errors of metabolism. She is currently a member of the Center for Pediatric Genomic Medicine at Children's Mercy-Kansas City. She serves or has served on a number of national, regional and state committees and organization and is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics. She has published numerous research papers and book chapters. She has co-edited one book.
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