A Clinical Guide to Inherited Metabolic Diseases (Paperback, 2 Rev ed)

Preface; Foreword Charles Scriver; 1. General principles; 2. Neurologic syndrome; 3. Metabolic acidosis; 4. Hepatic syndrome; 5. Cardiac syndromes; 6. Storage syndrome and dysmorphism; 7. Acute metabolic illness in the newborn; 8. Newborn screening; 9. Laboratory investigation; 10. Treatment; Index.