Bokus
Fanny Mochel, Robin Lachmann, �ngeles Garc�a Cazorla - Inherited Metabolic Diseases and the Brain, Inbunden

Inbunden, Engelska, 2027

Inherited Metabolic Diseases and the Brain

Av Fanny Mochel, Robin Lachmann, �ngeles Garc�a Cazorla

Del i serien Handbook of Clinical Neurology

3269 kr

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Beskrivning
Inherited Metabolic Diseases and the Brain explores the latest research on the neurological aspects of inherited metabolic diseases such as epilepsy, encephalotomy and more. With a strong research driven foundation and clinical applications, this book provides a primer which will help practicing pediatric and adult neurologists recognize, diagnose and treat neurometabolic disorders. This volume will also present a number of more common disorders in more detail, describing the variability in clinical presentation, the life course of the disease and the intricacies of diagnosis and treatment.

  • Highlights the wide range of clinical presentation of inherited metabolic diseases
  • Offers clinical applications on diagnosis and treatment
  • Explores the latest research on the effect of inherited metabolic diseases on the brain
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Fanny Mochel is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Triheptanoin. The author has co-authored over 150. She was previously a professor at the University of Rostock & the University of Minnesota. Dr Lachmann trained in the UK in General Internal Medicine and Metabolic Medicine. His interest in genetic disease led to a PhD and postdoctoral work on developing viral vectors for gene delivery to the brain. He moved to his current post at UCLH in 2005. He leads a multidisciplinary team looking after adults with inherited metabolic diseases. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation and National Specialty Advisor for Metabolic Disorders to the English National Health Service. Dr García-Cazorla received her M.D. from the University of Barcelona Medical School and obtained a Pediatrics degree and a PhD (European Doctorate) in medicine at the “Universitat Autonoma de Barcelona”.She did her predoctoral training in inborn errors of metabolism at Hôpital Necker (Paris), and a post-doctoral research fellowship in the department of Neurology at Columbia University (New York). She is currently the coordinator of the Inborn Errors of Metabolism Unit at Hospital Sant Joan de Deu in Barcelona.

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