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.
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Table of Contents
1. Pediatric Clinical Biochemistry: Why Is It Different? 2. Current Approaches to Genetic Testing In Pediatric Disease 3. Data Analytics in Pediatric Laboratory Medicine 4. Disorders in the Neonatal Period 5. Repiratory Disorders in the Neonate 6. Cardiac Disorders 7. Kidney and Urinary Tract Disorders 8. Hepatic and Gastrointestinal Disorders 9. Adrenal Disorders 10. Biochemical and Molecular Evaluation of Thyroid Gland Disorders in Children 11. Disorders of Growth 12. Disorders of Calcium and Phosphate Metabolism in Infants and Children 13. Endocrine Emergencies 14. Biochemical Genetic Disorders 15. Disorders of Iron Metabolism 16. Disorders of Porphyrin Metabolism 17. Erythrocyte Disorders 18. Pediatric Bleeding Disorders 19. Pediatric Thrombotic Disorders 20. Biological and Molecular Markers in the Diagnosis of Childhood Malignancies 21. Primary Immunodeficiency Diseases 22. Allergic Disorders 23. Autoimmune Disorders 24. Cystic Fibrosis 25. Pediatric Therapeutic Drug Monitoring, Toxicology and Pharmacogenomics 26. Adolescent Disorders 27. Pediatric Reproductive Disorders 28. Disorders of Lipid and Lipoprotiein Metabolism 29. Neurological Disorders 30. Psychiatric Disorders
Authors
Edward C.C. Wong Medical Director, Coagulation/Blood Bank, Quest Diagnostics/Nichols Institute, Chantilly, VA, USA.
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
Dennis J. Dietzen Professor of Pathology and Immunology, and Pediatrics, Washington University School of Medicine, Medical Director of Laboratory Services, St. Louis Children's Hospital, MO, USA.
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.
Michael J. Bennett Professor Emeritus, Perelman School of Medicine, University of Pennsylvania, PA, USA.
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.
Shannon Haymond 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.
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