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Metabolic Diseases : Foundations of Clinical Management, Genetics, and Pathology.

By: Contributor(s): Material type: TextTextPublisher: Amsterdam : IOS Press, Incorporated, 2017Copyright date: ©2017Edition: 1st edDescription: 1 online resource (960 pages)Content type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9781614997184
Subject(s): Genre/Form: Additional physical formats: Print version:: Metabolic DiseasesDDC classification:
  • 616.39
LOC classification:
  • RB147 .M483 2017
Online resources:
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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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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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.

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