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Pediatric Endocrinology and Inborn Errors of Metabolism
CITATION
Sarafoglou, Kyriakie;
Hoffmann, Georg; and
Roth, Karl
.
Pediatric Endocrinology and Inborn Errors of Metabolism
. McGraw-Hill Professional, 2008.
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Pediatric Endocrinology and Inborn Errors of Metabolism
Authors:
Kyriakie Sarafoglou
,
Georg Hoffmann
and
Karl Roth
Published:
December 2008
eISBN:
9780071811576 0071811575
|
ISBN:
9780071439152
Open eBook
Book Description
Table of Contents
Contents
Contributors
Preface
Part I: Emergency Treatment, Newborn Sereening, and Molecular Testing
Chapter 1 Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders
Chapter 2 Newborn Screening
Chapter 3 Molecular Testing for Endocrine and Metabolic Disorders
Part II: Disorers of Fuel Metabolism
Chapter 4 Hyperinsulinism
Chapter 5 Mitochondrial Fatty Acid Oxidation Defects
Chapter 6 Glycogen Storage Diseases
Chapter 7 Organic Acidurias
Chapter 8 Ketone Synthesis and Utilization Defects
Chapter 9 The Galactosemias
Chapter 10 Disorders of Fructose Metabolism
Chapter 11 Urea Cycle Disorders
Chapter 12 Creatine Deficiency Syndromes
Chapter 13 Phenylketonuria
Chapter 14 Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism
Chapter 15 Tyrosinemia and Other Disorders of Tyrosine Degradation
Chapter 16 Disorders of Transsulfuration
Chapter 17 Inborn Errors of Folate and Cobalamin Transport and Metabolism
Chapter 18 Oxidative Phosphorylation Diseases and Mitochondrial DNA Depletion Syndrome
Chapter 19 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Chapter 20 Diabetes Mellitus
Chapter 21 Overweight and Obesity
Chapter 22 Lipids and Lipoprotein Abnormalities
Chapter 23 Defects of Cholesterol Biosynthesis
Chapter 24 Inborn Errors of Peroxisome Biogenesis and Function
Chapter 25 Congenital Disorders of Glycosylation
Part III: Disorders of the Thyroid Cland
Chapter 26 Disorders of the Thyroid Gland
Part IV: Disorders of the Adrenals
Chapter 27 Congenital Adrenal Hyperplasia
Chapter 28 Cushing Syndrome in Children and Adolescents
Chapter 29 Adrenal Insufficiency
Part V: Disorders of Growth and Puberty
Chapter 30 Disorders of Growth
Chapter 31 Turner Syndrome
Chapter 32 Developmental Disorders of the Anterior Pituitary
Chapter 33 Precocious Puberty
Chapter 34 Variants of Pubertal Progression
Part VI: Disorders of the Reproductive System
Chapter 35 Disorders of Sex Development
Chapter 36 Female Hypogonadism
Chapter 37 Male Hypogonadism
Chapter 38 Adolescent Menstrual Disorders
Part VII: Disorders of Bone and Mineral Metabolism
Chapter 39 Disorders of Calcium, Phosphate, and Bone Metabolism
Chapter 40 Disorders of Mineral Metabolism (Iron, Copper, Zinc, and Molybdenum)
Part VIII: Disorders of Water Metabolism and Transport Systems
Chapter 41 Disorders of Water Metabolism
Chapter 42 Disorders of Membrane Transport
Part IX: Select Disorders of Complex Molecule Biosynthesis
Chapter 43 Lysosomal Disorders
Chapter 44 Purine and Pyrimidine Metabolism
Part X: Neurotransmitter Deficiencies
Chapter 45 Neurotransmitter Disorders
Part XI: Endocrine-Related Neoplasias
Chapter 46 Endocrine-Related Cancer
Chapter 47 Endocrine Problems in Pediatric Cancer Survivors
Part XII: Endocrine and Metabolic Laboratory and Radiology Tests
Chapter 48 Laboratory Investigations of Inborn Errors of Metabolism
Chapter 49 Endocrine Testing
Chapter 50 Radiographic Imaging
Index
