Inborn Metabolic Diseases (PDF)
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists,...
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This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book's main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
- 2006, 4th, revidierte ed. 2006, 561 Seiten, Englisch
- Herausgegeben: John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, John H. Walter
- Verlag: Springer-Verlag GmbH
- ISBN-10: 354028785X
- ISBN-13: 9783540287858
- Erscheinungsdatum: 22.11.2006
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- Dateiformat: PDF
- Grösse: 10 MB
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"[This title] is a pleasure to read...Written by clinicians for clinicians... It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles... this is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)
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