Vademecum Metabolicum
Diagnosis and Treatment of Inborn Errors of Metabolism Forword by William L. Nyhan, San Diego, USA
3. Auflage
Erschienen am 28. Februar 2012
184 Seiten
978-3-7945-6646-4 (ISBN)
Beschreibung
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 ist 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.
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 ist 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.
Weitere Details
Auflage
3., vollständig überarb. Aufl.
Sprache
Englisch
Verlagsort
Stuttgart
Deutschland
Zielgruppe
Practitioners of all specialities, in particular paediatricians, geneticists, general physicians, neurologists, laboratory physicians, midwives, nurses, and medical students
Illustrationen
29 Abbildungen, 40 Tabellen
ISBN-13
978-3-7945-6646-4 (9783794566464)
Schweitzer Klassifikation
Weitere Ausgaben
Personen
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 ((Englische Ausgabe:)) Univ.-Prof. Dr. med. habil., Ph. D., Professor and Chair of Human Genetics, Medical University Innsbruck, Austria
Georg F. Hoffmann
Univ.-Prof. Dr. med. Prof. h.c. (RCH), Facharzt für Kinderheilkunde und Jugendmedizin; Professor für Kinderheilkunde, Ärztlicher Direktor der Klinik Kinderheilkunde I, Geschäftsführender Ärztlicher Direktor des Zentrums für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg ((Englische Ausgabe:)) Univ.-Prof. Dr. med. habil., Prof. h.c. (RCH), Professor and Chair of Paediatrics, University Hospital Heidelberg
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 ((Englische Ausgabe:)) Univ.-Prof. Dr. med. habil., Ph. D., Professor and Chair of Human Genetics, Medical University Innsbruck, Austria
Georg F. Hoffmann
Univ.-Prof. Dr. med. Prof. h.c. (RCH), Facharzt für Kinderheilkunde und Jugendmedizin; Professor für Kinderheilkunde, Ärztlicher Direktor der Klinik Kinderheilkunde I, Geschäftsführender Ärztlicher Direktor des Zentrums für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg ((Englische Ausgabe:)) Univ.-Prof. Dr. med. habil., Prof. h.c. (RCH), Professor and Chair of Paediatrics, University Hospital Heidelberg
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
