Inborn Metabolic Diseases: Diagnosis and Treatment
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 o...
Gespeichert in:
| Weitere Verfasser: | , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Berlin, Heidelberg
Springer Berlin Heidelberg
2000
|
| Ausgabe: | 3rd, Revised Edition |
| Schlagworte: | |
| Online-Zugang: | UBR01 Volltext |
| Zusammenfassung: | 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 |
| Beschreibung: | 1 Online-Ressource (XII, 467 p. 57 illus) |
| ISBN: | 9783662042854 |
| DOI: | 10.1007/978-3-662-04285-4 |
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| 520 | |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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| author2 | Fernandes, John Saudubray, Jean-Marie Berghe, Georges Van den |
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| dewey-full | 618.92 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 618 - Gynecology, obstetrics, pediatrics, geriatrics |
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| dewey-search | 618.92 |
| dewey-sort | 3618.92 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| doi_str_mv | 10.1007/978-3-662-04285-4 |
| edition | 3rd, Revised Edition |
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| isbn | 9783662042854 |
| language | English |
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| spelling | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Georges Van den Berghe 3rd, Revised Edition Berlin, Heidelberg Springer Berlin Heidelberg 2000 1 Online-Ressource (XII, 467 p. 57 illus) txt rdacontent c rdamedia cr rdacarrier 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 Pediatrics Neurology Endocrinology Human Genetics Human genetics Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Fernandes, John edt Saudubray, Jean-Marie edt Berghe, Georges Van den edt Erscheint auch als Druck-Ausgabe 9783662042878 Erscheint auch als Druck-Ausgabe 9783662042861 Erscheint auch als Druck-Ausgabe 9783540656265 https://doi.org/10.1007/978-3-662-04285-4 Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Inborn Metabolic Diseases Diagnosis and Treatment Pediatrics Neurology Endocrinology Human Genetics Human genetics Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | Inborn Metabolic Diseases Diagnosis and Treatment |
| title_auth | Inborn Metabolic Diseases Diagnosis and Treatment |
| title_exact_search | Inborn Metabolic Diseases Diagnosis and Treatment |
| title_full | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Georges Van den Berghe |
| title_fullStr | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Georges Van den Berghe |
| title_full_unstemmed | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Georges Van den Berghe |
| title_short | Inborn Metabolic Diseases |
| title_sort | inborn metabolic diseases diagnosis and treatment |
| title_sub | Diagnosis and Treatment |
| topic | Pediatrics Neurology Endocrinology Human Genetics Human genetics Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Pediatrics Neurology Endocrinology Human Genetics Human genetics Angeborene Krankheit Stoffwechselkrankheit |
| url | https://doi.org/10.1007/978-3-662-04285-4 |
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