| Description |
1 online resource (xiv, 620) : illustrations |
| Contents |
Disorders of intermediary metabolism -- Disorders of the biosynthesis and breakdown of complex molecules -- Neurotransmitter defects and related disorders -- When to suspect metabolic disease -- Metabolic emergencies -- Metabolic emergencies: work-up of the patient with metabolic acidosis and massive ketosis -- Metabolic emergencies: work-up of the patient with lactic academia: mitochondrial disease -- Metabolic emergencies: work-up of the patient with hypoglycemia -- Metabolic emergencies: approach to the child suspected of having a disorder of fatty acid oxidation -- Metabolic emergencies: work-up of the patient with hyperammonemia -- Metabolic emergencies: work-up of the patient with acute neurological or psychiatric manifestations -- Metabolic emergencies: emergency treatment of inherited metabolic diseases |
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Patient care and treatment -- Anesthesia and metabolic disease -- Approach to the patient with cardiovascular disease -- Liver disease -- Gastrointestinal and general abdominal symptoms -- Kidney disease and electrolyte disturbances -- Neurological disease -- Metabolic myopathies -- Psychiatric disease -- Eye disorders -- Skin and hair disorders -- Physical abnormalities in metabolic diseases -- Hematological disorders -- Immunological problems -- Newborn screening for inherited metabolic disease -- Biochemical studies -- Enzymes, metabolic pathways, flux control analysis, and the enzymology of specific groups of inherited metabolic disease -- DNA studies -- Pathology: biopsy -- Suspected mitochondrial disorder -- Postmortem investigations -- Function tests -- Family issues, carrier tests, and prenatal diagnosis |
| Summary |
The explosion of insights in the field of metabolic disease has shed light on diagnostic as well as treatment options. This book presents an overview of the major groups of metabolic disorders. It presents clinical and diagnostic details with a system and symptom based to facilitate an efficient diagnostic work-up of individual patients |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Metabolism -- Disorders -- Genetic aspects
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Metabolism, Inborn errors of -- Diagnosis.
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Metabolism, Inborn Errors -- diagnosis
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Metabolism, Inborn Errors -- therapy
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Pediatrics.
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Family & General Practice.
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MEDICAL.
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Internal Medicine.
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Neurology.
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Pathology.
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Practice Management & Reimbursement.
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Genetics.
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Médecine.
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Metabolism, Inborn errors of -- Diagnosis
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| Genre/Form |
Electronic books
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Aufsatzsammlung.
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| Form |
Electronic book
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| Author |
Hoffmann, Georg F. (Georg Friedrich)
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Zschocke, Johannes.
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Nyhan, William L., 1926-
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| ISBN |
9783540747239 |
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3540747230 |
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