Full Description
The acclaimed clinical guide to managing both pediatric endocrine disorders and inborn errors of metabolismNo other text so skillfully blends the disciplines of endocrinology and inborn metabolic disorders into one clinically focused, highly visual resource as Pediatric Endocrinology and Inborn Errors of Metabolism. In this practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights clinicians need to confidently diagnose and manage pediatric patients. This full-color resource guides readers through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields.* Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process* At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place * Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplinesEditorsKyriakie Sarafoglou, MD, is Director, Leo Fung Center for Congenital Adrenal Hyperplasia and Disorders of Sex Development, Division of Pediatric Endocrinology, Division of Genetics and Metabolism, University of Minnesota Medical School, Minneapolis, Minnesota.Georg F. Hoffmann, MD, Univ.-Prof. Dr. med., Prof. h.c. mult. (RCH) is Professor and Chair, University Children's Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Baden-Wurttemberg, Germany.Karl S. Roth, MD is Professor and Chair (Retired), Department of Pediatrics, Creighton University School of Medicine, Omaha, Nebraska.
Contents
ContributorsPrefacePART I: EMERGENCY TREATMENT, NEWBORN SCREENING, AND MOLECULAR TESTING1. Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders, Susan A. Berry, Brandon Nathan, Georg F. Hoffmann, Kyriakie Sarafoglou2. Newborn Screening, Andreas Schulze, Dietrich Matern, Georg F. Hoffmann3. Molecular Testing for Endocrine and Metabolic Disorders, Johannes Zschocke4. Hyperinsulinism, Andrea Kelly, Charles A. Stanley5. Mitochondrial Fatty Acid Oxidation Defects, Arnold W. Strauss, Brage S. Andresen, Michael J. Bennett6. Glycogen Storage Diseases, David A. Weinstein, Karl S. Roth, Joseph I. Wolfsdorf7. Organic Acidurias, Georg F. Hoffmann, Andreas Schulze8. Ketone Synthesis and Utilization Defects, Claude Sansaricq, Sherly Pardo Reoyo9. The Galactosemias, Karl S. Roth, Claude Sansaricq10. Disorders of Fructose Metabolism, Claude Sansaricq, Manisha Balwani11. Urea Cycle Disorders, Marshall L. Summar12. Creatine Deficiency Syndromes, Andreas Schulze13. Phenylketonuria, Peter Burgard, Ziaoping Luo, Georg F. Hoffmann14. Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism, Nenad Blau, Beat Thony15. Tyrosinemia and Other Disorders of Tyrosine Degradation, James V. Leonard, Andrew A.M. Morris16. Disorders of Transsulfuration, Brian Fowler17. Inborn Errors of Folate and Cobalamin Transport and Metabolism, Chantal F. Morel, David S. Rosenblatt18. Oxidative Phosphorylation Diseases and Mitochondrial DNA Depletion Syndrome, Mark A. Tarnopolsky, Sandeep Raha19. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle, Douglas S. Kerr, Arthur B. Zinn20. Diabetes Mellitus, Constantin Polychronakos, Costa Voulgaropoulos, Zubin Punthakee21. Overweight and Obesity, Stephen B. Sondike22. Lipids and Lipoprotein Abnormalities, Juergen R. Schafer, Muhidien Soufi, Julia Steinberger, Ertan Mayatepek23. Defects of Cholesterol Biosynthesis, Dorothea Haas, Richard I. Kelley, Georg F. Hoffmann24. Inborn Errors of Peroxisome Biogenesis and Function, Ronald J.A. Wanders25. Congenital Disorders of Glycosylation, Christian Korner, Christian Thiel, Georg F. Hoffmann26. Disorders of the Thyroid Gland, Michel Polak, Guy Van Vliet27. Congenital Adrenal Hyperplasia, Kyriakie Sarafoglou, Kathryn D. Harrington, Walter O. Bockting28. Cushing Syndrome in Children and Adolescents, Maria Alexandra Magiakou, Kyriakie Sarafoglou, Constantine A. Stratakis, George P. Chrousos29. Adrenal Insufficiency, Lynda E. Polgreen, Kyriakie Sarafoglou, Anna Petryk30. Disorders of Growth, Stephen F. Kemp, J. Paul Frindik31. Turner Syndrome, Constantine A. Stratakis, Kyriakie Sarafoglou, Bradley S. Miller32. Developments Disorders of the Anterior Pituitary, Brigitte Frohnert, Bradley S. Miller33. Precocious Puberty, Melena Bellin, Kyriakie Sarafoglou, Brandon Nathan34. Variants of Pubertal Progression, Betsey Schwartz, Kyriakie Sarafoglou, Christopher P. Houk, Peter A. Lee35. Disorders of Sex Development, Eric Vilain, Kyriakie Sarafoglou, Nadir Yehya36. Female Hypogonadism, Bala Bhagavath, Bruce R. Carr37. Male Hypogonadism, Darius A. Paduch, Peter N. Schlegel38. Adolescent Menstrual Disorders, Hilary Smith, Mitchell P. Rosen, Marcelle I. Cedars39. Disorders of Calcium, Phosphate, and Bone Metabolism, Karl S. Roth, Robert J. Ward, James C.M. Chan, Kyriakie Sarafoglou40. Disorders of Mineral Metabolism (Iron, Copper, Zine, and Molybdenum), David M. Koeller41. Disorders of Water Metabolism, Tim Cheetham, Stephen Ball42. Disorders of Membrane Transport, Karl. S. Roth43. Lysosomal Disorders, Gregory M. Enns, Robert D. Steiner, Tina M. Cowan44. Purine and Pyrimidine Metabolism, William L. NyhanPART X: NEUROTRANSMITTER DEFICIENCIES45. Neurotransmitter Disorders, Keith Hyland, K. Michael Gibson, Radhakant Sharma, Johan L.K. van Hove, Georg F. HoffmannPART XI: ENDOCRINE-RELATED NEOPLASIAS46. Endocrine-Related Cancer, Constantine A. Stratakis, Karel Pacak, Jordan Pinsker, Andrew J. Bauer47. Endocrine Problems in Pediatric Cancer Survivors, Thomas Moshang, Jr., Sogol Mostoufi-MoabPART XII: ENDOCRINE AND METABOLIC LABORATORY AND RADIOLOGY TESTS48. Laboratory Investigations of Inborn Errors of Metabolism, Tina M. Cowan, Chunli Yu49. Endocrine Testing, Bradley S. Miller, Irene Hong McAtee50. Radiographic Imaging, Kumud Sane, Shashikant M. SaneIndexNER(01): WOW
