Lesch-Nyhan Disease is underdiagnosed due to large heterogeneity of its clinical symptoms and the difficulty of diagnosing of the less severe forms of the disease. For metabolic and genetic specialists, this book is designed as a quick reference on clinical, biochemical, genetic and therapeutic aspects of the disease. We hope this book will contribute to improve understanding of the pathophysiology of the disease mainly the neurological dysfunction and preclude the development of useful therapies.
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