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Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways - Couverture rigide

Livre 15 sur 21: Oxford Monographs on Medical Genetics
 
9780199797585: Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways
Couverture rigide
ISBN 10 : 0199797587 ISBN 13 : 9780199797585
Editeur : Oxford University Press Inc, 2014

Synopsis

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.

Les informations fournies dans la section « Synopsis » peuvent faire référence à une autre édition de ce titre.

À propos de l'auteur

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.

Les informations fournies dans la section « A propos du livre » peuvent faire référence à une autre édition de ce titre.

Éditeur
Oxford University Press Inc
Date d'édition
2014
Langue
anglais
ISBN 10 
0199797587
ISBN 13 
9780199797585
Reliure
Relié
Numéro d'édition
1
Nombre de pages
384
Éditeur
Lee Brendan, Scaglia Fernando
Coordonnées du fabricant
non disponible
Personne responsable
Ufficio Anagrafiche Messaggerie
ufficio.anagrafiche@meli.it

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