Neurology of Hereditary Metabolic Diseases of Children

The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children. Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling ne [...]
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The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children. Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike.New to the third edition: coverage of newly discovered disorders - complete with differential diagnosis, diagnosis, and treatment; tables categorizing diseases by mechanisms; treatment for disorders that previously had no known treatment options; thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease; case examples with clinical pearls; and web sites and contact information for patient support groups.