Pediatric endocrinology and inborn errors of metabolism

著者

書誌事項

Pediatric endocrinology and inborn errors of metabolism

editor, Kyriakie Sarafoglou ; associate editors, Georg F. Hoffman, Karl S. Roth ; consulting editor, Howard Courtney

McGraw-Hill Medical, c2009

大学図書館所蔵 件 / 全3件

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: 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 All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

目次

Contributors Preface PART I: EMERGENCY TREATMENT, NEWBORN SCREENING, AND MOLECULAR TESTING 1. Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders, Susan A. Berry, Brandon Nathan, Georg F. Hoffmann, Kyriakie Sarafoglou 2. Newborn Screening, Andreas Schulze, Dietrich Matern, Georg F. Hoffmann 3. Molecular Testing for Endocrine and Metabolic Disorders, Johannes Zschocke PART II: DISORDERS OF FUEL METABOLISM 4. Hyperinsulinism, Andrea Kelly, Charles A. Stanley 5. Mitochondrial Fatty Acid Oxidation Defects, Arnold W. Strauss, Brage S. Andresen, Michael J. Bennett 6. Glycogen Storage Diseases, David A. Weinstein, Karl S. Roth, Joseph I. Wolfsdorf 7. Organic Acidurias, Georg F. Hoffmann, Andreas Schulze 8. Ketone Synthesis and Utilization Defects, Claude Sansaricq, Sherly Pardo Reoyo 9. The Galactosemias, Karl S. Roth, Claude Sansaricq 10. Disorders of Fructose Metabolism, Claude Sansaricq, Manisha Balwani 11. Urea Cycle Disorders, Marshall L. Summar 12. Creatine Deficiency Syndromes, Andreas Schulze 13. Phenylketonuria, Peter Burgard, Ziaoping Luo, Georg F. Hoffmann 14. Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism, Nenad Blau, Beat Thony 15. Tyrosinemia and Other Disorders of Tyrosine Degradation, James V. Leonard, Andrew A.M. Morris 16. Disorders of Transsulfuration, Brian Fowler 17. Inborn Errors of Folate and Cobalamin Transport and Metabolism, Chantal F. Morel, David S. Rosenblatt 18. Oxidative Phosphorylation Diseases and Mitochondrial DNA Depletion Syndrome, Mark A. Tarnopolsky, Sandeep Raha 19. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle, Douglas S. Kerr, Arthur B. Zinn 20. Diabetes Mellitus, Constantin Polychronakos, Costa Voulgaropoulos, Zubin Punthakee 21. Overweight and Obesity, Stephen B. Sondike 22. Lipids and Lipoprotein Abnormalities, Juergen R. Schafer, Muhidien Soufi, Julia Steinberger, Ertan Mayatepek 23. Defects of Cholesterol Biosynthesis, Dorothea Haas, Richard I. Kelley, Georg F. Hoffmann 24. Inborn Errors of Peroxisome Biogenesis and Function, Ronald J.A. Wanders 25. Congenital Disorders of Glycosylation, Christian Korner, Christian Thiel, Georg F. Hoffmann PART III: DISORDERS OF THE THYROID GLAND 26. Disorders of the Thyroid Gland, Michel Polak, Guy Van Vliet PART IV: DISORDERS OF THE ADRENALS 27. Congenital Adrenal Hyperplasia, Kyriakie Sarafoglou, Kathryn D. Harrington, Walter O. Bockting 28. Cushing Syndrome in Children and Adolescents, Maria Alexandra Magiakou, Kyriakie Sarafoglou, Constantine A. Stratakis, George P. Chrousos 29. Adrenal Insufficiency, Lynda E. Polgreen, Kyriakie Sarafoglou, Anna Petryk PART V: DISORDERS OF GROWTH AND PUBERTY 30. Disorders of Growth, Stephen F. Kemp, J. Paul Frindik 31. Turner Syndrome, Constantine A. Stratakis, Kyriakie Sarafoglou, Bradley S. Miller 32. Developments Disorders of the Anterior Pituitary, Brigitte Frohnert, Bradley S. Miller 33. Precocious Puberty, Melena Bellin, Kyriakie Sarafoglou, Brandon Nathan 34. Variants of Pubertal Progression, Betsey Schwartz, Kyriakie Sarafoglou, Christopher P. Houk, Peter A. Lee PART VI: DISORDERS OF THE REPRODUCTIVE SYSTEM 35. Disorders of Sex Development, Eric Vilain, Kyriakie Sarafoglou, Nadir Yehya 36. Female Hypogonadism, Bala Bhagavath, Bruce R. Carr 37. Male Hypogonadism, Darius A. Paduch, Peter N. Schlegel 38. Adolescent Menstrual Disorders, Hilary Smith, Mitchell P. Rosen, Marcelle I. Cedars PART VII: DISORDERS OF BONE AND MINERAL METABOLISM 39. Disorders of Calcium, Phosphate, and Bone Metabolism, Karl S. Roth, Robert J. Ward, James C.M. Chan, Kyriakie Sarafoglou 40. Disorders of Mineral Metabolism (Iron, Copper, Zine, and Molybdenum), David M. Koeller PART VIII: DISORDERS OF WATER METABOLISM AND TRANSPORT SYSTEMS 41. Disorders of Water Metabolism, Tim Cheetham, Stephen Ball 42. Disorders of Membrane Transport, Karl. S. Roth PART IX: SELECT DISORDERS OF COMPLEX MOLECULE BIOSYNTHESIS 43. Lysosomal Disorders, Gregory M. Enns, Robert D. Steiner, Tina M. Cowan 44. Purine and Pyrimidine Metabolism, William L. Nyhan PART X: NEUROTRANSMITTER DEFICIENCIES 45. Neurotransmitter Disorders, Keith Hyland, K. Michael Gibson, Radhakant Sharma, Johan L.K. van Hove, Georg F. Hoffmann PART XI: ENDOCRINE-RELATED NEOPLASIAS 46. Endocrine-Related Cancer, Constantine A. Stratakis, Karel Pacak, Jordan Pinsker, Andrew J. Bauer 47. Endocrine Problems in Pediatric Cancer Survivors, Thomas Moshang, Jr., Sogol Mostoufi-Moab PART XII: ENDOCRINE AND METABOLIC LABORATORY AND RADIOLOGY TESTS 48. Laboratory Investigations of Inborn Errors of Metabolism, Tina M. Cowan, Chunli Yu 49. Endocrine Testing, Bradley S. Miller, Irene Hong McAtee 50. Radiographic Imaging, Kumud Sane, Shashikant M. Sane Index

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