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Pediatric Endocrinology And Inborn Errors Of Metabolism, Second Edition

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Pediatric Endocrinology And Inborn Errors Of Metabolism, Second Edition
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  1. Cover
  2. Title Page
  3. Copyright Page
  4. Dedication
  5. Contents
  6. Contributors
  7. Preface
  8. PART I NEWBORN SCREENING, EMERGENCY TREATMENT, AND MOLECULAR TESTING
  9. Chapter 1 Newborn Screening
  10. Chapter 2 Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders
  11. Chapter 3 Introduction to Molecular Testing Including Exome/Genome Sequencing
  12. PART II DISORDERS OF FUEL METABOLISM
  13. Chapter 4 Hyperinsulinism
  14. Chapter 5 Glycogen Storage Diseases
  15. Chapter 6 The Galactosemias
  16. Chapter 7 Disorders of Fructose Metabolism
  17. Chapter 8 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
  18. Chapter 9 Mitochondrial Fatty Acid Oxidation Defects
  19. Chapter 10 Ketone Synthesis and Utilization Defects
  20. Chapter 11 Oxidative Phosphorylation Diseases
  21. Chapter 12 Creatine Deficiency Syndromes
  22. Chapter 13 Urea Cycle Disorders
  23. Chapter 14 Organic Acidurias
  24. Chapter 15 Phenylketonuria
  25. Chapter 16 Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism
  26. Chapter 17 Tyrosinemias and Other Disorders of Tyrosine Degradation
  27. Chapter 18 Disorders of Transsulfuration
  28. Chapter 19 Inborn Errors of Folate and Cobalamin Transport and Metabolism
  29. Chapter 20 Diabetes Mellitus
  30. Chapter 21 Child and Adolescent Obesity
  31. Chapter 22 Lipids and Lipoprotein Abnormalities
  32. Chapter 23 Defects of Cholesterol Biosynthesis
  33. Chapter 24 Inborn Errors of Peroxisome Biogenesis and Function
  34. Chapter 25 Genetic Defects in Synthesis and Transport of Bile Acids
  35. Chapter 26 The Porphyrias
  36. PART III THYROID GLAND DISORDERS
  37. Chapter 27 Disorders of the Thyroid Gland
  38. PART IV DISORDERS OF THE ADRENALS
  39. Chapter 28 Adrenal Insufficiency
  40. Chapter 29 Congenital Adrenal Hyperplasia
  41. Chapter 30 Cushing Syndrome
  42. PART V DISORDERS OF GROWTH AND PUBERTY
  43. Chapter 31 Disorders of Growth
  44. Chapter 32 Turner Syndrome
  45. Chapter 33 Developmental Disorders of the Anterior Pituitary
  46. Chapter 34 Precocious Puberty
  47. Chapter 35 Variants of Pubertal Progression
  48. PART VI DISORDERS OF THE REPRODUCTIVE SYSTEM
  49. Chapter 36 Disorders of Sex Development
  50. Chapter 37 Female Hypogonadism
  51. Chapter 38 Male Hypogonadism
  52. Chapter 39 Vaginal Bleeding and Menstrual Disorders
  53. PART VII BONE AND MINERAL DENSITY
  54. Chapter 40 Disorders of Calcium, Phosphate, and Bone Metabolism
  55. Chapter 41 Disorders of Mineral Metabolism (Iron, Copper, Zinc, and Molybdenum)
  56. PART VIII DISORDERS OF WATER METABOLISM AND TRANSPORT SYSTEMS
  57. Chapter 42 Disorders of Water Metabolism
  58. Chapter 43 Disorders of Membrane Transport
  59. PART IX SELECT DISORDERS OF COMPLEX MOLECULE BIOSYNTHESIS
  60. Chapter 44 Congenital Disorders of Glycosylation
  61. Chapter 45 Lysosomal Disorders
  62. Chapter 46 Purine and Pyrimidine Metabolism
  63. PART X NEUROTRANSMITTER DEFICIENCIES
  64. Chapter 47 Neurotransmitter Disorders
  65. PART XI ENDOCRINE-RELATED NEOPLASIAS
  66. Chapter 48 Endocrine-Related Cancer
  67. Chapter 49 Endocrine Problems in Pediatric Cancer Survivors
  68. PART XII ENDOCRINE AND METABOLIC LABORATORY AND RADIOLOGIC TESTING
  69. Chapter 50 Laboratory Investigations of Inborn Errors of Metabolism
  70. Chapter 51 Endocrine Testing
  71. Chapter 52 Diagnostic Imaging
  72. Index
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