Inherited Metabolic Disease in Adults

Informationen zum Autor Carla E. M. Hollak is Professor of Internal Medicine in the Division of Endocrinology and Metabolism at the University of Amsterdam and the Academic Medical Center (AMC). She heads the adult inherited metabolic unit at AMC, including the centers of excellence for Gaucher and Fabry disease and a rapidly growing service for adults with inborn errors of metabolism. Hollak regularly serves as expert for regulatory agencies both at a national and international level. She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors of Metabolism.Robin Lachmann is Consultant in Metabolic Medicine at the National Hospital for Neurology and Neurosurgery, London, where he heads the Charles Dent Metabolic Unit. He is a member of the British Inherited Metabolic Disease Group and the Society for the Study of Inborn Errors of Metabolism, serving as chair of the latter's adult group. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation, organizing training and education in rare diseases; Chair of the Metabolic Disorders Clinical Reference Group, which advises NHS England on metabolic services; and an elected member of Council of the Royal College of Physicians, London. Klappentext As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Zusammenfassung As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever....

Product details

• Authors: Carla E. M. Hollak, Carla E. M. (Professor of Internal Medicin Hollak
• Assisted by: Carla E. M. Hollak (Editor), Carla E. M. (Professor of Internal Medicine Hollak (Editor), Hollak Carla E. M. (Editor), Robin Lachmann (Editor), Robin (Consultant in Metabolic Medicine Lachmann (Editor), Lachmann Robin (Editor)
• Publisher: Oxford University Press
• Languages: English
• Product format: Hardback
• Released: 08.08.2016
• EAN: 9780199972135
• ISBN: 978-0-19-997213-5
• No. of pages: 648
• Dimensions: 223 mm x 287 mm x 26 mm
• Series: Oxford Monographs on Medical Genetics; Oxford Monographs on Medical G
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; MEDICAL / Diseases, MEDICAL / Nutrition, MEDICAL / Genetics, Dietetics & nutrition, Medical Genetics, Dietetics and nutrition, Hereditary diseases & disorders, Hereditary diseases and disorders