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Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition

Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition

9780071773140
900,84 zł Brutto
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Opis

The acclaimed clinical guide to managing both pediatric endocrine disorders and inborn errors of metabolism

No 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 disciplines

Editors

Kyriakie 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 Childrens 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.

Szczegóły produktu
59212
9780071773140
9780071773140

Opis

Rok wydania
2017
Numer wydania
2
Oprawa
twarda
Liczba stron
1296
Wymiary (mm)
218 x 279
Waga (g)
3724
  • 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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