JIMD Reports - Case and Research Reports, 2012/4
5 contributors - Paperback
£44.99
Georg F. Hoffmann, Dr.med.habil, MD, is Professor and Chairman of the University Childrens Hospital Heidelberg, Head of the Metabolic Center including the Newborn Screening Laboratory as well as Head of the Center for Rare Diseases, Medical Center University of Heidelberg Germany. He has been working in the field of diagnosis and treatment of patients with inherited metabolic diseases for over 30 years with the main emphasis on newborn screening as well as clinical and laboratory research on neurometabolic and intoxication type disorders (neurotransmitter defects, aminoacidopathies, organoacidopathies, and urea cycle disorders).
Johannes Zschocke, Dr.med.habil, PhD is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria, and is Director of the Division for Human Genetics and the Center for Medical Genetics Innsbruck. He has longstanding clinical and research experience in inherited metabolic diseases, with special expertise in genetic diagnosis and genotype-phenotype correlations.William L. Nyhan, MD, PhD isDistinguished Professor of Pediatrics and Director of the Biochemical Genetics Laboratory at the University of California San Diego. He is the author of 655 publications, including the Atlas of Inherited Metabolic Diseases and is a Board Member of Lesch-Nyhan Syndrome Children’s Research Foundation, 1995 to present.