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    1. Medicin
    2. Klinisk medicin och internmedicin
    3. Endokrinologi

    Pediatric Endocrinology and Inborn Errors of Metabolism

    AvKyriakie Sarafoglou,Georg F. Hoffmann

    Inbunden, Engelska, 2008

    1 250 kr

    Beställningsvara. Skickas inom 3-6 vardagar. Fri frakt över 249 kr.

    Beskrivning

    Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolismA 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 Medicine4 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'sIn 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 processAt-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 placeAll-inclusive coverage encompasses the full spectrum of critical topicsEmergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disordersChapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testingComplete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

    Produktinformation

    • Utgivningsdatum:2008-12-03
    • Mått:229 x 287 x 44 mm
    • Vikt:2 494 g
    • Format:Inbunden
    • Språk:Engelska
    • Antal sidor:976
    • Förlag:McGraw-Hill Education - Europe
    • ISBN:9780071439152

    Utforska kategorier

    • Endokrinologi inom Medicin
    • Pediatrik inom Medicin

    Mer om författaren

    Editor:Kyriakie Sarafoglou, MDDirector, Leo Fung Center for Congenital Adrenal Hyperplasia& Disorders of Sex DevelopmentDivision of Pediatric EndocrinologyDivision of Genetics & MetabolismUniversity of Minnesota Medical SchoolUniversity of Minnesota Children's Hospital-FairviewMinneapolis, MNAssociate Editors:Georg F. Hoffman, MD, Univ.-Prof. Dr. med., Prof. h.c. (RCH),Geschaftsfuhrender DirektorUniversitats-KinderklinikDirektor Abteilung I (Schwerpunkte: Allgemeine KinderheilkundeStoffwechsel, Gastroenterologie, Nephrologie)Heidelberg, Baden-Wurttemberg, GermanyKarl S. Roth, MDProfessor and ChairDepartment of PediatricsCreighton University School of MedicineOmaha, NE

    Innehållsförteckning

    • 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 ZschockePART II: DISORDERS OF FUEL METABOLISM4. 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. HoffmannPART III: DISORDERS OF THE THYROID GLAND26. Disorders of the Thyroid Gland, Michel Polak, Guy Van VlietPART IV: DISORDERS OF THE ADRENALS27. 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 PetrykPART V: DISORDERS OF GROWTH AND PUBERTY30. 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. LeePART VI: DISORDERS OF THE REPRODUCTIVE SYSTEM35. 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. CedarsPART VII: DISORDERS OF BONE AND MINERAL METABOLISM39. 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. KoellerPART VIII: DISORDERS OF WATER METABOLISM AND TRANSPORT SYSTEMS41. Disorders of Water Metabolism, Tim Cheetham, Stephen Ball42. Disorders of Membrane Transport, Karl. S. RothPART IX: SELECT DISORDERS OF COMPLEX MOLECULE BIOSYNTHESIS43. 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. SaneIndex