Immediate access to expert advice ... Every so often a physician will be confronted with a patient who has an inborn error of metabolism. This can be a challenging situation, particularly in an emergency when rapid, specific investigations and effective treatment are essential for a good outcome. It is exactly then that it is good to have the Vademecum Metabolicum at hand. This concise book ... * explains the typical presentation patterns of the various metabolic disease groups; * describes essential differential diagnostic procedures; * summarises the main features of all metabolic diseases from the clinician's point of view. With its unique approach, easy accessibility, and availability in 10 different Languages, Vademecum Metabolicum is the most successful book on inborn errors of metabolism worldwide! Highly valued by practitioners in all specialities (particularly paediatricians, geneticists, general physicians, neurologists, laboratory physicians) as well as midwives, nurses and medical students.
Autorentext
Johannes Zschocke Univ.-Prof. Dr. med. Ph. D., Facharzt für Humangenetik und Medizinische Genetik; Professor für Humangenetik, Direktor der Division für Humangenetik, Ärztlicher Leiter des Zentrums Medizinische Genetik Innsbruck, Medizinische Universität Innsbruck
Inhalt
Diagnosis and management of metabolic disease Essential basic laboratory tests General clinical situations: metabolic emergency, epileptic encephalopathy, sudden infant death, unusual clinical and laboratory findings, post-mortem investigations, etc. Special metabolic investigations Function tests Newborn screening Metabolic pathways and their disorders