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.

This book elucidates comprehensive, application-based knowledge in the field of human genetics from a scientific (Read) and clinical (Donnai) perspective. The respected authors, marvelous illustrations, the unique didactic structure and comprehension questions (with answers) have propelled this title on to the lists of numerous leading universities - including Harvard Medical School - in Britain and the USA. The editors of this licensed edition have adapted the translation to German circumstances and have added an additionalcase on sterility.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Mediziner sind haufig mit Fragen der Humangenetik konfrontiert, ob bei Kindern mit Trisomie 21 oder Mukoviszidose-Patienten. In dem Band werden die Grundlagen der Genetik dargestellt - in Verbindung mit praktischen Fragestellungen: Welche Krankheitsbilder gibt es? Wie werden welche Organe beeinflusst? Daruber hinaus werden spezielle klinische Probleme sowie der Umgang mit Patienten und mit Daten eroertert. Das Lehrbuch ist eine Hilfe fur Mediziner, wenn sie Patientengesprache fuhren, Risiken abwagen und ethische Grundsatze im Blick behalten wollen.