Inborn Errors of Metabolism

From Neonatal Screening to Metabolic Pathways

Brendan Lee, Fernando Scaglia


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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.

Détails
Auteur
Brendan  Lee , Fernando  Scaglia
Marque
Oxford University Press
Collection
n.c
Parution
2014-10-01
Pages
400 pages
EAN papier
9780199797585
Langue
Anglais
Informations ebook
EAN PDF
9780199797684
Prix
111,97 €
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Taille du fichier 26481 Ko
Ce livre est accessible aux handicaps   Informations sur l'accessibilité
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Auteur(s) du livre


Defaut-Illustration Brendan Lee
Defaut-Illustration Fernando Scaglia
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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