A Clinical Guide to Inherited Metabolic Diseases

This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where one goes from here to establish a diagnosis. The well-illustrated text is organised around the clinical presentation of the disease to facilitate rapid diagnosis.

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This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where one goes from here to establish a diagnosis. The well-illustrated text is organised around the clinical presentation of the disease, to facilitate rapid diagnosis, and then clearly explains how to go about identifying the underlying biochemical and genetic lesion. It will therefore complement those more traditional textbooks of metabolic disease which are organised biochemically, but which are of less practical use in the doctor's clinic or surgery. The book is intended to serve as an entrance to the discipline, to help nonexpert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems.