Inborn Metabolic Diseases: Diagnosis and Treatment
The editors of Inborn Metabolic Diseases: Diagnosis and Treat ment are joined by coauthors from a world-class cadre to pro duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in bot...
Gespeichert in:
| Weitere Verfasser: | , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Berlin, Heidelberg
Springer Berlin Heidelberg
1990
|
| Schlagworte: | |
| Online-Zugang: | UBR01 Volltext |
| Zusammenfassung: | The editors of Inborn Metabolic Diseases: Diagnosis and Treat ment are joined by coauthors from a world-class cadre to pro duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline |
| Beschreibung: | 1 Online-Ressource (XXI, 730 p) |
| ISBN: | 9783662026137 |
| DOI: | 10.1007/978-3-662-02613-7 |
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| 520 | |a The editors of Inborn Metabolic Diseases: Diagnosis and Treat ment are joined by coauthors from a world-class cadre to pro duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline | ||
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Datensatz im Suchindex
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| author2 | Fernandes, John Saudubray, Jean-Marie Tada, Keiya |
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| dewey-ones | 616 - Diseases |
| dewey-raw | 616.39 |
| dewey-search | 616.39 |
| dewey-sort | 3616.39 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| doi_str_mv | 10.1007/978-3-662-02613-7 |
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| id | DE-604.BV046144708 |
| illustrated | Not Illustrated |
| indexdate | 2024-07-10T08:36:26Z |
| institution | BVB |
| isbn | 9783662026137 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-031524893 |
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| physical | 1 Online-Ressource (XXI, 730 p) |
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| spelling | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Keiya Tada Berlin, Heidelberg Springer Berlin Heidelberg 1990 1 Online-Ressource (XXI, 730 p) txt rdacontent c rdamedia cr rdacarrier The editors of Inborn Metabolic Diseases: Diagnosis and Treat ment are joined by coauthors from a world-class cadre to pro duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline Metabolic Diseases Human Genetics Pediatrics Endocrinology Biochemistry, general Metabolic diseases Human genetics Biochemistry 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 Tada, Keiya edt Erscheint auch als Druck-Ausgabe 9783662026151 Erscheint auch als Druck-Ausgabe 9783662026144 Erscheint auch als Druck-Ausgabe 9783540509516 https://doi.org/10.1007/978-3-662-02613-7 Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Inborn Metabolic Diseases Diagnosis and Treatment Metabolic Diseases Human Genetics Pediatrics Endocrinology Biochemistry, general Metabolic diseases Human genetics Biochemistry 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, Keiya Tada |
| title_fullStr | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Keiya Tada |
| title_full_unstemmed | Inborn Metabolic Diseases Diagnosis and Treatment edited by John Fernandes, Jean-Marie Saudubray, Keiya Tada |
| title_short | Inborn Metabolic Diseases |
| title_sort | inborn metabolic diseases diagnosis and treatment |
| title_sub | Diagnosis and Treatment |
| topic | Metabolic Diseases Human Genetics Pediatrics Endocrinology Biochemistry, general Metabolic diseases Human genetics Biochemistry Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Metabolic Diseases Human Genetics Pediatrics Endocrinology Biochemistry, general Metabolic diseases Human genetics Biochemistry Angeborene Krankheit Stoffwechselkrankheit |
| url | https://doi.org/10.1007/978-3-662-02613-7 |
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