Sinopsis
Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism.- Mitochondriopathies Neurotransmitter Defects.-Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease.- Patient Care and Treatment.- Metabolic Emergencies.- Anesthesia and Metabolic Disease.- Principles of Dietary Therapy.- Principles of Enzyme Replacement Therapy.- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease.- Liver Disease.- Gastrointestinal and General Abdominal Symptoms.- Kidney Disease and Electrolyte Disturbances.- Neurological Disease.- Metabolic Myopathies.- Psychiatric Disease.- Eye Disorder.- Skin and Hair Disorders.- Bone Disorders.- Physical Abnormalities in Metabolic Diseases.- Hematological Disorders.- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening.- Biochemical Studies.- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases.- Molecular Investigations (DNA Studies).- Pathology / Biopsy.- Postmortem Investigations.- Neuroimaging.- Function Tests.- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes.- Reference Books.- E3 Internet Resources.
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