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Metabolic diseases : foundations of clinical management, genetics, and pathology / edited by Enid Gilbert-Barnes, Lewis A. Barness, Philip M. Farrell.
EBSCOhost Academic eBook Collection (North America) Available online
EBSCOhost Academic eBook Collection (North America)- Format:
- Book
- Series:
- IOS Press Series
- Language:
- English
- Subjects (All):
- Metabolism--Disorders.
- Metabolism.
- Physical Description:
- 1 online resource (960 pages)
- Edition:
- 1st ed.
- Place of Publication:
- Amsterdam, [Netherlands] : IOS Press, 2017.
- Summary:
- The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology.A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic.
- 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.
- Notes:
- Includes bibliographical references at the end of each chapters and index.
- Description based on print version record.
- Description based on publisher supplied metadata and other sources.
- ISBN:
- 1-61499-718-7
- OCLC:
- 970041845
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