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Brendan Lee, Fernando Scaglia - Inborn Errors of Metabolism, Inbunden

Inbunden, Engelska, 2014

Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Av Brendan Lee, Fernando Scaglia

Del i serien Oxford Monographs on Medical Genetics

2577 kr

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Beskrivning
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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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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This is an excellent volume on metabolism in general and inborn errors of metabolism in particular. It provides you the opportunity to understand various metabolic disorders, and the chemical and physiological processes involved in complex diseases.

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