Biochemical and Molecular Basis of Pediatric Disease

Biochemical and Molecular Basis of Pediatric Disease

5th Edition - May 13, 2021

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  • Editors: Edward Wong, Dennis Dietzen, Michael Bennett, Shannon Haymond
  • Paperback ISBN: 9780128179628
  • eBook ISBN: 9780128179635

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Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases.

Key Features

  • Provides a fully-updated resource with more color illustrations
  • Focuses on the biochemical and molecular basis of disease as well as the analytical techniques
  • Defines important differences in the pathophysiology of diseases, comparing childhood with adult


Laboratory pathologists, clinical chemists, pediatricians, and geneticists; practicing clinicians, fellows and residents in pathology, internal medicine, and family practice

Table of Contents

  • Dedication
    Dennis J. Dietzen, Edward C. Wong, Michael J. Bennett and Shannon Haymond
    Dennis J. Dietzen
    1. Pediatric Clinical Biochemistry: Why Is It Different?
    Patricia M. Jones and Khushbu Patel
    2. Current Approaches to Genetic Testing In Pediatric Disease
    Jorge Granadillo and Khadija Belhassan
    3. Data Analytics in Pediatric Laboratory Medicine
    Stephen R. Master and Emily Gill
    4. Disorders in the Neonatal Period
    Edward C. Wong and Mary Revenis
    5. Repiratory Disorders in the Neonate
    Jeffery Dawson and Akshaya Vachharajani
    6. Cardiac Disorders
    Janetta Bryksin
    7. Kidney and Urinary Tract Disorders
    Rasheda Amin, Sun-Young Ahn and Asha Moudgil
    8. Hepatic and Gastrointestinal Disorders
    Stephen Matthew Roper, Janis Stoll and Sakil Kulkarni
    9. Adrenal Disorders
    Gabriela P. Finkielstain, Smita Jha and Deborah Merke
    10. Biochemical and Molecular Evaluation of Thyroid Gland Disorders in Children
    Edgard Delvin, Fabien Magne and Guy Van Vliet
    11. Disorders of Growth
    William E. Winter and Paul Hiers
    12. Disorders of Calcium and Phosphate Metabolism in Infants and Children
    Van Leung-Pineda and Maryam Salehi
    13. Endocrine Emergencies
    Jill D. Jacobson
    14. Biochemical Genetic Disorders
    Michael J. Bennett and Andrew Edmondson
    15. Disorders of Iron Metabolism
    Yaser Diab and Dennis J. Dietzen
    16. Disorders of Porphyrin Metabolism
    Silvia Tortorelli and Kimiyo M. Raymond
    17. Erythrocyte Disorders
    Emily Riehm Meier and Courtney Lawrence
    18. Pediatric Bleeding Disorders
    Yaser Diab, Michael F. Guerrera, Carrie Diamond and Julie Weisman
    19. Pediatric Thrombotic Disorders
    Edward C. Wong
    20. Biological and Molecular Markers in the Diagnosis of Childhood Malignancies
    Scott Raskin and Anne L. Angiolillo
    21. Primary Immunodeficiency Diseases
    Blachy Javier Dávila Saldaña, Michael Keller and Michael Edzards
    22. Allergic Disorders
    Alyssa James, Amaziah Coleman, Hemant P. Sharma and Wendy Paul
    23. Autoimmune Disorders
    Lawrence Jung and Wendy Paul
    24. Cystic Fibrosis
    Thomas W. Ferkol and Ferdinand Coste
    25. Pediatric Therapeutic Drug Monitoring, Toxicology and Pharmacogenomics
    Uttam Garg
    26. Adolescent Disorders
    Sarah K. Garwood and Mary Fournier
    27. Pediatric Reproductive Disorders
    Jami Josefson and Shannon Haymond
    28. Disorders of Lipid and Lipoprotiein Metabolism
    Alan Remaley and Rami A. Ballout
    29. Neurological Disorders
    Carlos Castillo Pinto and Marc T. DiSabella
    30. Psychiatric Disorders
    Finza Latif, Julie Berga

Product details

  • No. of pages: 1168
  • Language: English
  • Copyright: © Academic Press 2021
  • Published: May 13, 2021
  • Imprint: Academic Press
  • Paperback ISBN: 9780128179628
  • eBook ISBN: 9780128179635

About the Editors

Edward Wong

Edward Wong FCAP is Medical Director, Coagulation, Quest Diagnostics Nichols Institute; Adjunct Associate Professor in Pediatrics and Pathology, George Washington School of Medicine and Health Sciences, Clinical Consultant at Children’s National Hospital in the Divisions of Pathology and Laboratory Medicine; and Hematology, Washington DC, USA

Affiliations and Expertise

Medical Director, Coagulation/Blood Bank, Quest Diagnostics/Nichols Institute, Chantilly, VA, USA

Dennis Dietzen

Dennis J. Dietzen, PhD, is Professor of Pathology and Pediatrics at Washington University School of Medicine and Medical Director of Laboratories at St. Louis Children’s Hospital. He received a B.S. from Marian College in Indianapolis and his Ph.D. from Indiana University. He completed a fellowship in Clinical Chemistry at Washington University in 1995 then served as Development Chemist at the former DuPont Diagnostics and Medical Director of Clinical Laboratories at the Memphis Veterans Affairs Hospital before returning to St. Louis. Dr. Dietzen is a member of the Society for Pediatric Research, the Society for Inborn Metabolic Disorders, and the Academy of Clinical Laboratory Physicians and Scientists. He received the AACC Award for Outstanding Contributions to Pediatric Clinical Chemistry in 2012 and served as AACC President in 2018. Dr. Dietzen serves on the Editorial Board for Clinical Biochemistry and Critical Review in Clinical Laboratory Science and serves as an Associate Editor for the Journal of Applied Laboratory Medicine. Dr. Dietzen’s current research interests focus on mass spectrometry applications in pediatrics including drug screening, rapid detection of metabolic disease, liver failure, pre-eclampsia, and neonatal hypoglycemia. He has authored or co-authored more than 100 peer-reviewed publications, monographs, editorials, and book chapters on these and other subjects.

Affiliations and Expertise

Professor of Pathology and Immunology, and Pediatrics, Washington University School of Medicine, Medical Director of Laboratory Services, St. Louis Children’s Hospital, MO, USA

Michael Bennett

Dr. Bennett obtained his PhD in Medical Enzymology from the University of Sheffield School of Medicine (UK) in 1976. He has been actively engaged in Clinical Chemistry since 1975 and has practiced primarily in Children’s Hospitals (Sheffield Children’s Hospital, Children’s Medical Center of Dallas and Children’s Hospital of Philadelphia where until his recent retirement he was Chief of Laboratory Medicine) where he developed a clinical and research interest in biochemical genetic diseases. He has published 285 peer-reviewed scientific papers and 53 book chapters, reviews and editorials. He has lectured extensively in the field of pediatric laboratory medicine. He is a Past-President, Treasurer and Board of Directors Member of AACC and Past President of the NACB (now the Academy of AACC) and past-chair of the Pediatric-Maternal Fetal and Metabolomics-Proteomics Divisions of AACC. He has numerous awards for his research and clinical service. He is an Associate Editor for Clinical Chemistry Journal and has sat on the editorial boards of Annals of Clinical Biochemistry, Journal of Inherited Metabolic Diseases and Molecular Genetics and Metabolism.

Affiliations and Expertise

Professor Emeritus, Perelman School of Medicine, University of Pennsylvania, PA, USA

Shannon Haymond

Shannon Haymond is the Vice Chair for Computational Pathology; Director, Mass Spectrometry, Ann and Robert H. Lurie Children’s Hospital of Chicago; Associate Professor of Pathology, Feinberg School of Medicine, Northwestern University, IL, USA

Affiliations and Expertise

Vice Chair for Computational Pathology; Director, Mass Spectrometry, Ann and Robert H. Lurie Children’s Hospital of Chicago; Associate Professor of Pathology, Feinberg School of Medicine, Northwestern University, IL, USA

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