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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 a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features Fully updated to incorporate all new developments in the field Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Metabolism, Inborn errors of --- Metabolic Diseases. --- Metabolism, Inborn Errors. --- Maladies héréditaires métaboliques --- Metabolism --- Disorders