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Metabolic Diseases : Foundations of Clinical Management, Genetics, and Pathology.
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Amsterdam :
IOS Press,
2017.
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| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- 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 BiosynthesisChapter 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 TubuleChapter 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.