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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. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Metabolism, Inborn errors of. --- Metabolism, Inborn Errors. --- Metabolism. --- Metabolism, Inborn errors of --- Metabolism --- Diagnosis --- Metabolism, Inborn Errors --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Metabolic Diseases --- Genetic Diseases, Inborn --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Nutritional and Metabolic Diseases --- Diseases --- Metabolic & Nutritional Diseases --- Pediatrics --- Medicine --- Health & Biological Sciences --- Disorders --- Genetic aspects --- Medicine. --- Clinical sciences --- Medical profession --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Human genetics. --- General practice (Medicine). --- Internal medicine. --- Neurology. --- Pathology. --- Pediatrics. --- Medicine & Public Health. --- Internal Medicine. --- General Practice / Family Medicine. --- Human Genetics. --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Genetic disorders --- Family medicine. --- Genetics --- Heredity, Human --- Physical anthropology --- Disease (Pathology) --- Medicine, Preventive --- Nervous system --- Neuropsychiatry --- Family practice (Medicine) --- General practice (Medicine) --- Physicians (General practice) --- Medicine, Internal --- Paediatrics --- Pediatric medicine --- Children --- Health and hygiene --- Neurology .

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In der medizinischen Betreuung werden Diagnostische Pfade zunehmend wichtiger: Sie unterstützen die Strukturierung des klinischen Prozesses von der Aufnahmediagnose bis zum Entlassungsbrief und senken somit die Wahrscheinlichkeit einer Fehlbehandlung, Verweildauer und Behandlungskosten des Patienten im Krankenhaus. Die 2. Auflage des Handbuchs umfasst Grundlagen, praktische Umsetzungsvorschläge und enthält typische Praxisbeispiele. The 2. edition of this unique book supports the practical implementation of diagnostic pathways in HIS and LIS using standardized algorithms, classified according to indications and symptoms.

Pancreas --- Diseases.

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Die Aussagekraft eines Laborbefundes hängt entscheidend von der Präanalytik ab, also von Prozessen, die vor der eigentlichen Messung der Proben im Labor ablaufen. Dieses Buch beschreibt alle präanalytischen Variablen - Indikation der Anforderung über Probengewinnung, Transport und Lagerung der Proben und Vorverarbeitung dieser für die Analyse - und definiert Qualitätskriterien der einzelnen Aspekte im Sinne einer evidenz-basierten Medizin. The preanalytical phase is an important component of Laboratory medicine and errors arising in this phase affect the validity of laboratory results. In this book physicians and clinical staff have access to valuable information about the current preanalytical variables and factors (patient preparation, sample collection, handling and processing before analysis).

Diagnosis, Laboratory. --- Quality control. --- Factory management --- Industrial engineering --- Reliability (Engineering) --- Sampling (Statistics) --- Standardization --- Quality assurance --- Quality of products --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Diagnosis --- Pathology