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|a 10.1007/978-3-662-04285-4
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|a (DE-He213)978-3-662-04285-4
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|a Inborn Metabolic Diseases
|h [electronic resource] :
|b Diagnosis and Treatment /
|c edited by John Fernandes, Jean-Marie Saudubray, Georges van den Berghe.
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| 250 |
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|a 3rd ed. 2000.
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| 264 |
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|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2000.
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| 300 |
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|a XII, 467 p. 57 illus.
|b online resource.
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| 336 |
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|a text
|b txt
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|a text file
|b PDF
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| 490 |
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|a Springer eBook Collection
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|a I Diagnosis and Treatment: General Principles -- 1. Clinical Approach to Inherited Metabolic Diseases -- 2. Diagnostic Procedures: Function Tests and Postmortem Protocol -- 3. Emergency Treatments -- 4. Psychosocial Care of the Child and Family -- 5. Treatment: Present Status and New Trends -- Il Disorders of Carbohydrate Metabolism -- 6. The Glycogen-Storage Diseases -- 7. Disorders of Galactose Metabolism -- 8. Disorders of Fructose Metabolism -- 9. Persistent Hyperinsulinemic Hypoglycemia -- Ill Disorders of Mitochondrial Energy Metabolism -- 10. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle -- 11. Disorders of Fatty Acid Oxidation -- 12. Disorders of Ketogenesis and Ketolysis -- 13. Defects of the Respiratory Chain -- IV Disorders of Amino Acid Metabolism and Transport -- 14. The Hyperphenylalaninaemias -- 15. Disorders of Tyrosine Metabolism -- 16. Branched-Chain Organic Acidurias -- 17. Disorders of the Urea Cycle -- 18. Disorders of Sulfur Amino Acid Metabolism -- 19. Disorders of Ornithine and Creatine Metabolism -- 20. Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders -- 21. Nonketotic Hyperglycinemia -- 22. Disorders of Proline and Serine Metabolism -- 23. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance -- V Vitamin-Responsive Disorders -- 24. Biotin-Responsive Multiple Carboxylase Deficiency -- 25. Disorders of Cobalamin and Folate Transport and Metabolism -- VI Neurotransmitter and Small Peptide Disorders -- 26. Disorders of Neurotransmission -- 27. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides -- VII Disorders of Lipid and Bile Acid Metabolism -- 28. Dyslipidemias -- 29. Disorders of Cholesterol Synthesis -- 30. Disorders of Bile-Acid Synthesis -- VIII Disorders of Nucleic Acid and Heme Metabolism -- 31. Disorders of Purine and Pyrimidine Metabolism -- 32. The Porphyrias -- IX Disorders of Metal Transport -- 33. Copper Transport Disorders: Wilson Disease and Menkes Disease -- 34. Genetic Defects Related to Metals Other Than Copper -- X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- 35. Disorders of Sphingolipid Metabolism -- 36. Mucopolysaccharidoses and Oligosaccharidoses -- 37. Peroxisomal Disorders -- 38. Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis -- 39. Cystinosis -- 40. Primary Hyperoxalurias -- 41. Leukotriene-C4-Synthesis Deficiency.
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| 520 |
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|a The diagnosis and treatment of metabolic diseases represent the main issues of this clinical book. Each disease-related chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and a short explanation of its major functions. The position of the figure on the left hand page facilitates its consultation when reading the text further. A short clinical abstract on the title page of the chapter is followed by the headings clinical presentation, metabolic derangement, diagnostis (and diagnostic tests), treatment and prognosis, genetics (main abnormalities only) and references, in a fixed order. As to treatment, this involves emergency treatment, maintenance treatment and, if applicable, treatment in the adult. Five chapters on general principles of diagnosis and treatment precede the chapters on specific disorders. The first is the most important chapter, since it is an introduction to the clinical approach to inborn metabolic disease (see Preface). The others deal with diagnostic, procedures, emergency treatment, psychosocial care, and, last but not least, the present status of treatments, with comprehensive lists, as well as new trends of treatment.
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| 590 |
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|a Loaded electronically.
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| 590 |
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|a Electronic access restricted to members of the Holy Cross Community.
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| 650 |
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|a Pediatrics.
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| 650 |
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|a Neurology .
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| 650 |
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|a Endocrinology .
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| 650 |
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|a Human genetics.
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| 690 |
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|a Electronic resources (E-books)
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| 700 |
1 |
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|a Fernandes, John.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 700 |
1 |
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|a Saudubray, Jean-Marie.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 700 |
1 |
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|a Berghe, Georges van den.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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| 830 |
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|a Springer eBook Collection.
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| 856 |
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|u https://holycross.idm.oclc.org/login?auth=cas&url=https://doi.org/10.1007/978-3-662-04285-4
|3 Click to view e-book
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