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Pediatric Endocrinology & Inborn Errors of Metabolism,

2nd ed.

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’˜ŽÒ : K.Sarafoglou, G.F.Hoffmann & K.S.Roth (eds.)
o”ÅŽÐ : MCGRAW-HILL COMPANIES
ISBN : 978-0-07-177314-0
ƒy[ƒW” : 1276pp.
o”Å”N : 2017”N

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’艿27,475‰~(–{‘Ì25,440‰~ { Å)

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PART I: EMERGENCY TREATMENT, NEWBORN SCREENING, AND MOLECULAR TESTING
1. Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders
2. Newborn Screening, Andreas Schulze, Dietrich Matern
3. Molecular Testing for Endocrine and Metabolic Disorders

PART II: DISORDERS OF FUEL METABOLISM
4. Hyperinsulinism
5. Mitochondrial Fatty Acid Oxidation Defects
6. Glycogen Storage Diseases
7. Organic Acidurias
8. Ketone Synthesis and Utilization Defects
9. The Galactosemias
10. Disorders of Fructose Metabolism
11. Urea Cycle Disorders
12. Creatine Deficiency Syndromes
13. Phenylketonuria
14. Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism
15. Tyrosinemia and Other Disorders of Tyrosine Degradation
16. Disorders of Transsulfuration
17. Inborn Errors of Folate and Cobalamin Transport and Metabolism
18. Oxidative Phosphorylation Diseases and Mitochondrial DNA Depletion Syndrome
19. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
20. Diabetes Mellitus
21. Overweight and Obesity
22. Lipids and Lipoprotein Abnormalities
23. Defects of Cholesterol Biosynthesis
24. Inborn Errors of Peroxisome Biogenesis and Function
25. Congenital Disorders of Glycosylation

PART III: DISORDERS OF THE THYROID GLAND
26. Disorders of the Thyroid Gland

PART IV: DISORDERS OF THE ADRENALS
27. Congenital Adrenal Hyperplasia
28. Cushing Syndrome in Children and Adolescents
29. Adrenal Insufficiency

PART V: DISORDERS OF GROWTH AND PUBERTY
30. Disorders of Growth
31. Turner Syndrome
32. Developments Disorders of the Anterior Pituitary
33. Precocious Puberty
34. Variants of Pubertal Progression

PART VI: DISORDERS OF THE REPRODUCTIVE SYSTEM
35. Disorders of Sex Development
36. Female Hypogonadism, Bala Bhagavath
37. Male Hypogonadism
38. Adolescent Menstrual Disorders

PART VII: DISORDERS OF BONE AND MINERAL METABOLISM
39. Disorders of Calcium, Phosphate, and Bone Metabolism
40. Disorders of Mineral Metabolism (Iron, Copper, Zine, and Molybdenum)

PART VIII: DISORDERS OF WATER METABOLISM AND TRANSPORT SYSTEMS
41. Disorders of Water Metabolism
42. Disorders of Membrane Transport

PART IX: SELECT DISORDERS OF COMPLEX MOLECULE BIOSYNTHESIS
43. Lysosomal Disorders
44. Purine and Pyrimidine Metabolism

PART X: NEUROTRANSMITTER DEFICIENCIES
45. Neurotransmitter Disorders

PART XI: ENDOCRINE-RELATED NEOPLASIAS
46. Endocrine-Related Cancer
47. Endocrine Problems in Pediatric Cancer Survivors

PART XII: ENDOCRINE AND METABOLIC LABORATORY AND RADIOLOGY TESTS
48. Laboratory Investigations of Inborn Errors of Metabolism
49. Endocrine Testing
50. Radiographic Imaging

Index

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