BookGeorg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors.
Contents:
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.