Inherited metabolic movement disorders are a significant and rapidly evolving field of study, linking two subspecialty areas of childhood-onset movement disorders and inborn errors of metabolism. Increasing the chance of early recognition of inherited metabolic movement disorders can have significant therapeutic implications for patients. Containing information on new disorders of post-translational modification and autophagy and their identification and treatment, there is thorough coverage of disorders of amino acids, energy metabolism, and lysosomal storage, amongst others. This key resource explores future directions in the field including next-generation genetic sequencing and novel therapeutic approaches such as deep brain stimulation. Supplementary videos are available on Cambridge Core, accessible via the code printed inside the cover. This essential text bridges the gap in communication between experts in genetic-metabolic medicine and movement disorder neurology. With an emphasis on treatable conditions that should not be missed, this volume guides you through various disorders from a clinical, biochemical and genetic perspective.
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Darius Ebrahimi-Fakhari is a Physician-Scientist at the Department of Neurology at Boston Children's Hospital. He is the recipient of the Outstanding Junior Member Award from the Child Neurology Society and the Young Investigator Award from the German Society for Pediatric Neurology.
Phillip L. Pearl is the William G. Lennox Chair and Professor of Neurology at Harvard Medical School and Director of Epilepsy and Clinical Neurophysiology at Boston Children's Hospital. He is the Past President of the Professors of Child Neurology and President-Elect of the Child Neurology Society. He is the editor of Inherited Metabolic Epilepsies (2018) and several other textbooks.
Les informations fournies dans la section « A propos du livre » peuvent faire référence à une autre édition de ce titre.
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