General principles -- Neurologic syndrome -- Metabolic acidosis -- Hepatic syndrome -- Cardiac syndromes -- Storage syndrome and dysmorphism -- Acute metabolic illness in the newborn -- Newborn screening -- Laboratory investigation
Summary
The second edition of the clinically organized, user-friendly handbook intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to identify an inherited metabolic disease, and how to progress to establish a diagnosis
