Inherited metabolic diseases : a clinical approach /: a clinical approach. ([2017])

• Record Type: Book
• Uniform Title: Inherited metabolic diseases (Springer)
• Further Information: Note: Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors.
• Editors: Hoffmann, Georg F (Georg Friedrich); Zschocke, Johannes; Nyhan, William L, 1926-
• Contents: Introduction to inborn errors of metabolism: disorders of intermediary metabolism -- Mitochondriopathies neurotransmitter defects -- Disorders of the biosynthesis and breakdown of complex molecules. Approach to the patient: when to suspect metabolic disease -- Patient care and treatment -- Metabolic emergencies -- Anesthesia and metabolic disease -- Principles of dietary therapy -- Principles of enzyme replacement therapy -- Principles of gene therapy. Organ systems in metabolic disease: cardiovascular disease -- Liver disease -- Gastrointestinal and general abdominal symptoms -- Kidney disease and electrolyte disturbances -- Neurological disease -- Metabolic myopathies -- Psychiatric disease -- Eye disorder -- Skin and hair disorders -- Bone disorders -- Physical abnormalities in metabolic diseases -- Hematological disorders -- Immunological problems. Investigations for metabolic diseases: newborn screening -- Biochemical studies -- Enzymes, metabolic pathways, flux control analysis and the enzymology of specific groups of inherited metabolic diseases -- Molecular investigations (DNA studies) -- Pathology / Biopsy -- Postmortem investigations -- Neuroimaging -- Function tests -- Suspected mitochondrial disorder. Appendix: differential diagnosis of clinical and biochemical phenotypes.
• Edition: Second edition
• Publisher Details: Heidelberg : Springer
• Publication Date: 2017
• Copyright Date: 2017
• Extent: 1 online resource (xviii, 605 pages), illustrations (some color)
• Subjects: 616.3/9042; Metabolism, Inborn errors of -- Diagnosis; Metabolism -- Disorders -- Genetic aspects; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Metabolism, Inborn errors of -- Diagnosis; Medicine & Public Health; Pediatrics; Internal Medicine; General Practice / Family Medicine; Neurology; Pathology; Human Genetics; Metabolism, Inborn Errors -- diagnosis; Metabolism, Inborn Errors -- genetics; Metabolism, Inborn Errors -- therapy; Electronic books; Electronic book
• Languages: English
• ISBNs: 9783662494103; 3662494108
• Related ISBNs: 9783662494080; 3662494086
• Notes: Note: Includes bibliographical references and index.; Note: Online resource; title from pdf title page (SpringerLink, viewed March 21, 2017).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.