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Inborn errors of metabolism : from neonatal screening to metabolic pathways /
Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on t...
| Clasificación: | Libro Electrónico |
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| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Oxford [England] ; New York, New York :
Oxford University Press,
2015.
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| Colección: | Oxford monographs on medical genetics ;
no. 64. |
| Temas: | |
| Acceso en línea: | Texto completo |
| Sumario: | Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease. |
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| Descripción Física: | 1 online resource (393 pages) |
| Bibliografía: | Includes bibliographical references and index. |
| ISBN: | 9780199797684 0199797684 1322191697 9781322191690 9780199398508 019939850X |