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Index
Cover
Frontmatter
1. Introduction to Inborn Errors of Metabolism
1. Disorders of Intermediary Metabolism
2. Disorders of the Biosynthesis and Breakdown of Complex Molecules
3. Neurotransmitter Defects and Related Disorders
2. Approach to the Patient with Metabolic Disease
1. When to Suspect Metabolic Disease
2. Metabolic Emergencies
2. Metabolic Emergencies
2. Metabolic Emergencies
2. Metabolic Emergencies
2. Metabolic Emergencies
2. Metabolic Emergencies
2. Metabolic Emergencies
2. Metabolic Emergencies
3. Patient Care and Treatment
4. Anesthesia and Metabolic Disease
3. Organ Systems in Metabolic Disease
1. Approach to the Patient with Cardiovascular Disease
2. Liver Disease
3. Gastrointestinal and General Abdominal Symptoms
4. Kidney Disease and Electrolyte Disturbances
5. Neurological Disease
6. Metabolic Myopathies
7. Psychiatric Disease
8. Eye Disorders
9. Skin and Hair Disorders
10. Physical Abnormalities in Metabolic Diseases
11. Hematological Disorders
12. Immunological Problems
4. Investigations for Metabolic Diseases
1. Newborn Screening for Inherited Metabolic Disease
2. Biochemical Studies
3. Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases
4. DNA Studies
5. Pathology — Biopsy
6. Suspected Mitochondrial Disorder
7. Postmortem Investigations
8. Function Tests
9. Family Issues, Carrier Tests, and Prenatal Diagnosis
Backmatter
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