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Inherited Metabolic Diseases, A Clinical Approach [With DVD ROM] - Mairdumont Gmbh & Co. Kg
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2010, ISBN: 9783540747222

ID: 1001004008938929

The ? eld of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspeci? c initial clinical manifestations. The patient does not come to the physician with the diagnosis; the patient comes with a history, symptoms, and signs. This book starts with those and proceeds lo- cally through ..., The ? eld of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspeci? c initial clinical manifestations. The patient does not come to the physician with the diagnosis; the patient comes with a history, symptoms, and signs. This book starts with those and proceeds lo- cally through algorithms from questions to answers. Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. To utilize as broad an experience as possible, its concept has been extended from a pocket-size book written jointly by ? ve colleagues to a textbook combining the experience of over 20 expert metabolic physicians. It is now imbedded in the environment of Springer Pediatric Metabolic Medicine in addition to the disease-based approach in Inborn Metabolic Diseases edited by John Fernandes and colleagues as well the series edited by Nenad Blau and colleagues on speci? c biochemical diagnostics, laboratory methods, and treatment. A system and symptom-based approach to inherited metabolic diseases should help colleagues from different specialties to diagnose their patients and to come to an optimal program of therapy. For metabolic and genetic specialists, this book is designed as a quick reference for what may be (even for the specialist) infrequently encountered presentations. Heidelberg, Germany Georg F.Taal: Engels; Afmetingen: 23x276x203 mm; Gewicht: 1,13 kg; Verschijningsdatum: januari 2010; ISBN10: 3540747222; ISBN13: 9783540747222; , Engelstalig | Other binding | 2010, Studie & Management, Medisch & Gezondheid, Geneeskunde, Studie & Management, Exacte wetenschappen, Levenswetenschappen, Mairdumont Gmbh & Co. Kg

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Inherited Metabolic Diseases: A Clinical Approach - Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan
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Details zum Buch
Inherited Metabolic Diseases: A Clinical Approach
Autor:

Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan

Titel:

Inherited Metabolic Diseases: A Clinical Approach

ISBN-Nummer:

9783540747222

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. 'Inherited Metabolic Disease - A Clinical Approach' is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. TOC:Introduction to Inborn Errors of Metabolism.- Disorders of Intermediary Metabolism.- Disorders of the Biosynthesis and Breakdown of Complex Molecules.- Neurotransmitter Defects and Related Disorders.- Other Inborn Errors of Metabolism.- Approach to the Patient with Metabolic Disease.- Pathological Neonatal Screening Results.- Metabolic Emergencies.- Cardiovascular Abnormalities.- Hepatic Abnormalities.- Gastrointestinal and General Abdominal Symptoms.- Renal and Electrolyte Disturbances.- Neurological Symptoms.- Myopathies.- Psychiatric Problems.- Eye Disorders.- Skin and Hair Disorders.- Sceletal Abnormalities.- Congenital Malformations.- Hematological Abnormalities.- Immunological Problems.- Peculiar Odour.- Investigations for Metabolic Disease.- Biochemical Studies.- Enzyme Studies.- DNA Studies.- Function Tests.- Other Investigations.- Postmodern Investigations.- Work-up for an Unclassified Multisystem Disease.- Work-up for a Possible Mitochondrial Disorder.- Indications for Lumbar Puncture.- Prenatal Diagnosis.- Family Analyses - Carrier Analysis.- Appendix.

Detailangaben zum Buch - Inherited Metabolic Diseases: A Clinical Approach


EAN (ISBN-13): 9783540747222
ISBN (ISBN-10): 3540747222
Gebundene Ausgabe
Erscheinungsjahr: 2009
Herausgeber: Springer-Verlag GmbH
448 Seiten
Gewicht: 1,149 kg
Sprache: eng/Englisch

Buch in der Datenbank seit 03.06.2008 21:41:43
Buch zuletzt gefunden am 05.02.2017 17:51:43
ISBN/EAN: 9783540747222

ISBN - alternative Schreibweisen:
3-540-74722-2, 978-3-540-74722-2

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