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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:
Tables categorizing diseases by mechanismsTreatment for disorders that previously had no known treatment optionsThorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular diseaseCase examples with clinical pearlsWeb sites and contact information for patient support groups