دانلود کتاب غددشناسی کودکان و متابولیسم کودکان و خطاهای موروثی متابولیسم
Pediatric Endocrinology and Inborn Errors of Metabolism, 2ed

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, Second Edition.

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 you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields.

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

If you’re in need of a clinically focused learning tool that bridges the gap between endocrinology and inborn metabolic disorders, your search ends here.

About the Author

Contents

Chapter 1: Newborn Screening
Chapter 2: Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders
Chapter 3: Introduction to Molecular Testing Including Exome/Genome Sequencing
Chapter 4: Hyperinsulinism
Chapter 5: Glycogen Storage Diseases
Chapter 6: The Galactosemias
Chapter 7: Disorders of Fructose Metabolism
Chapter 8: Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Chapter 9: Mitochondrial Fatty Acid Oxidation Defects
Chapter 10: Ketone Synthesis and Utilization Defects
Chapter 11: Oxidative Phosphorylation Diseases
Chapter 12: Creatine Deficiency Syndromes
Chapter 13: Urea Cycle Disorders
Chapter 14: Organic Acidurias
Chapter 15: Phenylketonuria
Chapter 16: Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism
Chapter 17: Tyrosinemias and Other Disorders of Tyrosine Degradation
Chapter 18: Disorders of Transsulfuration
Chapter 19: Inborn Errors of Folate and Cobalamin Transport and Metabolism
Chapter 20: Diabetes Mellitus
Chapter 21: Child and Adolescent Obesity
Chapter 22: Lipids and Lipoprotein Abnormalities
Chapter 23: Defects of Cholesterol Biosynthesis
Chapter 24: Inborn Errors of Peroxisome Biogenesis and Function
Chapter 25: Genetic Defects in Synthesis and Transport of Bile Acids
Chapter 26: The Porphyrias
Chapter 27: Disorders of the Thyroid Gland
Chapter 28: Adrenal Insufficiency
Chapter 29: Congenital Adrenal Hyperplasia
Chapter 30: Cushing Syndrome
Chapter 31: Disorders of Growth
Chapter 32: Turner Syndrome
Chapter 33: Developmental Disorders of the Anterior Pituitary
Chapter 34: Precocious Puberty
Chapter 35: Variants of Pubertal Progression
Chapter 36: Disorders of Sex Development
Chapter 37: Female Hypogonadism
Chapter 38: Male Hypogonadism
Chapter 39: Vaginal Bleeding and Menstrual Disorders
Chapter 40: Disorders of Calcium, Phosphate, and Bone Metabolism
Chapter 41: Disorders of Mineral Metabolism (Iron, Copper, Zinc, and Molybdenum)
Chapter 42: Disorders of Water Metabolism
Chapter 43: Disorders of Membrane Transport
Chapter 44: Congenital Disorders of Glycosylation
Chapter 45: Lysosomal Disorders
Chapter 46: Purine and Pyrimidine Metabolism
Chapter 47: Neurotransmitter Disorders
Chapter 48: Endocrine-Related Cancer
Chapter 49: Endocrine Problems in Pediatric Cancer Survivors
Chapter 50: Laboratory Investigations of Inborn Errors of Metabolism
Chapter 51: Endocrine Testing
Chapter 52: Diagnostic Imaging