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Metabolic diseases: foundations of clinical management, genetics, and pathology / edited by Enid Gilbert-Barness, Lewis A. Barness, Philip M. Farrell. — Second edition. — 1 online resource. — Includes indexes. — <URL:http://elib.fa.ru/ebsco/1455961.pdf>.

Record create date: 1/26/2017

Subject: Metabolism — Disorders.; Metabolism — Disorders.; HEALTH & FITNESS / Diseases / General; MEDICAL / Diseases; MEDICAL / Endocrinology & Metabolism

Collections: EBSCO

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Table of Contents

  • Title Page
  • Preface
  • Foreword
  • About the Editors
  • Contents
  • Chapter 1: Approach to Diagnosis of Metabolic Diseases
  • Chapter 2: Prenatal Diagnosis and Newborn Screening
  • Chapter 3: Disorders of Amino Acid Metabolism
  • Chapter 4: Disorders of Branched Chain Amino Acid Metabolism
  • Chapter 5: Defects of the Urea Cycle
  • Chapter 6: Fatty Acid Beta-Oxidation Defects
  • Chapter 7: Mitochondrial Myopathies and Disorders
  • Chapter 8: Glycogen Storage Diseases: Diagnosis, Treatment and Outcome
  • Chapter 9: Mucopolysaccharidoses
  • Chapter 10: Oligosaccharidoses and Allied Disorders
  • Chapter 11: Disorders of Sterol Biosynthesis
  • Chapter 12: Lysosomal Storage Diseases
  • Chapter 13: Disorders of Nucleotide Metabolism: Purines and Pyrimidines
  • Chapter 14: Disorders of Metal Metabolism
  • Chapter 15: Neuronal Ceroid-Lipofuscinoses
  • Chapter 16: Cystic Fibrosis
  • Chapter 17: The Porphyrias
  • Chapter 18: Inherited Intrahepatic Cholestatic Disorders and Disorders of Bilirubin Metabolism
  • Chapter 19: Genetic and Metabolic Disorders of the Endocrine System
  • Chapter 20: Metabolic Cardiomyopathies
  • Chapter 21: Molecular Disorders of Red Blood Cells, Platelets, and Coagulation System
  • Chapter 22: Genetic Disorders of the Renal Tubule
  • Chapter 23: Genetic Disorders of Calcium, Phosphorus, and Bone Homeostasis
  • Chapter 24: Peroxisome Biogenesis Disorders
  • Chapter 25: Neuromuscular Disorders
  • Chapter 26: Gene Therapy for Metabolic Diseases
  • Appendix I: Newborn Screening Panel: Core Panel and Secondary Targets
  • Appendix II: The Metabolic Disease Autopsy
  • Appendix III: Laboratories Performing Specialized Studies
  • Subject Index
  • Author Index

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