Pediatric Endocrinology and Inborn Errors of Metabolism

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9780071439152: Pediatric Endocrinology and Inborn Errors of Metabolism

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

"synopsis" may belong to another edition of this title.

About the Author:

Editor:

Kyriakie Sarafoglou, MD
Director, Leo Fung Center for Congenital Adrenal Hyperplasia
& Disorders of Sex Development
Division of Pediatric Endocrinology
Division of Genetics & Metabolism
University of Minnesota Medical School
University of Minnesota Children's Hospital-Fairview
Minneapolis, MN

Associate Editors:

Georg F. Hoffman, MD, Univ.-Prof. Dr. med., Prof. h.c. (RCH),
Geschaftsfuhrender Direktor
Universitats-Kinderklinik
Direktor Abteilung I (Schwerpunkte: Allgemeine Kinderheilkunde
Stoffwechsel, Gastroenterologie, Nephrologie)
Heidelberg, Baden-Wurttemberg, Germany

Karl S. Roth, MD
Professor and Chair
Department of Pediatrics
Creighton University School of Medicine
Omaha, NE

"About this title" may belong to another edition of this title.

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Book Description McGraw-Hill Medical/Jaypee Brothers Medical Publishers, 2008. Hardcover. Book Condition: New. First edition. 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 Table of contents 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 Printed Pages: 964. Bookseller Inventory # 42184

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Book Description McGraw-Hill Medical/Jaypee Brothers Medical Publishers, 2008. Hardcover. Book Condition: New. First edition. 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 Table of contents 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 Printed Pages: 964. Bookseller Inventory # 42184

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