Inborn errors of metabolism represent a special challenge in general and paediatric practice. The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic disorders in various biochemical pathways makes it difficult to be familiar with diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum aims to provide practical guidance to the clinician. The second edition has been extensively updated and expanded. The first section summarises the differential diagnosis and management strategies for a large number of clinical situations, and describes indications and requirements for all relevant metabolic investigations. The second section explains the metabolic pathways in detail. Clinical characteristics, diagnostic approaches and the basis of therapy are discussed for more than 300 individual disorders. Foreword by James V. Leonard, LondonManual of Metabolic Paediatrics Johannes Zschocke, Georg Friedrich Hoffmann ... IgA, IgE, or lgG2, radioresistant DNA synthesis in cultured fibroblasts, mutation analysis DD: Friedreich ataxia, primary vitamin E deficiency, Marinesco-Sjogrenanbsp;...
|Author||:||Johannes Zschocke, Georg Friedrich Hoffmann|
|Publisher||:||Schattauer Verlag - 2004|