Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways
This book is an expansion on the known treatment model of IEMs, 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 screening 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 increasinglyrecognized natural histories of disease.
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Produktdetails
Weitere Autoren: Scaglia, Fernando (Hrsg.)
- ISBN: 978-0-19-979758-5
- EAN: 9780199797585
- Produktnummer: 17116112
- Verlag: OXFORD UNIV PR
- Sprache: Englisch
- Erscheinungsjahr: 2014
- Seitenangabe: 366 S.
- Masse: H25.4 cm x B17.8 cm x D2.5 cm 862 g
- Reihenbandnummer: 64
- Gewicht: 862
Über den Autor
Brendan Lee, MD, PhD, is Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders.Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. His primary research interests include the natural history and molecular characterization of mitochondrial cytopathies, clinical trials for Leigh syndrome, and the study of nitric oxide and glucose metabolism in patients with MELAS syndrome.
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