Inborn Errors of Metabolism
From Neonatal Screening to Metabolic Pathways
Published on 20. November 2014
Book
Hardback
384 pages
978-0-19-979758-5 (ISBN)
Description
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.
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.
Reviews / Votes
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. * Hiro Motiram, Bizindia.net *More details
Series
Language
English
Place of publication
New York
United States
Target group
College/higher education
Professional and scholarly
Dimensions
Height: 180 mm
Width: 257 mm
Thickness: 25 mm
Weight
845 gr
ISBN-13
978-0-19-979758-5 (9780199797585)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions
Brendan MD Lee | Fernando MD Scaglia
Inborn Errors of Metabolism
From Neonatal Screening to Metabolic Pathways
E-Book
10/2014
1st Edition
OUP eBook
€121.99
Available for download
Persons
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.
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.
Content
SECTION 1. Newborn Screening ; Chapter 1: Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation ; V. Reid Sutton and Brett H. Graham ; SECTION 2. Pathways ; Chapter 2: Human Glycosylation Disorders: Many faces, many pathways ; Hudson H. Freeze, Erik A. Eklund and Donna M. Krasnewich ; Chapter 3. Gluconeogenesis ; Erin M. Coffee and Dean R. Tolan ; Chapter 4. Branched chain amino acid metabolism ; Irini Manoli and Charles Venditti ; Chapter 5. Glycolysis ; Areeg El-Gharbawy and Dwight Koeberl ; Chapter 6. Urea Cycle: Ureagenesis and Non-Ureagenic Functions ; Oleg A. Shchelochkov, Sandesh CS Nagamani, Philippe M. Campeau, Ayelet Erez, Brendan H. Lee ; Chapter 7. Fatty Acid Metabolism and Defects ; Marwan S. Shinawi and Lutfi A. Abu-Elheiga ; Chapter 8. Mitochondrial disorders ; Ayman W El-Hattab and Fernando Scaglia ; Chapter 9. Cholesterol, sterols, and isoprenoids ; Yasemen Eroglu, Jean-Baptiste Roullet, and Robert D. Steiner ; Chapter 10. Disorders of One Carbon Metabolism ; Luis Umana and William J. Craigen ; Chapter 11. Neurotransmission and Neurotoxicity (PKU and Dopamine) ; Uta Lichter-Konecki ; SECTION 3. Therapeutic Approaches ; Chapter 12. Cell and organ transplantation ; Alberto Burlina, Andrea Bordugo, Georg F. Hoffmann, and Jochen Meyburg ; Chapter 13. Gene replacement therapy ; Nicola Brunetti-Pierri ; Chapter 14. Protein replacement therapy ; Christine Eng & Gregory Pastores ; Chapter 15. Chaperone therapy ; Marc Patterson ; Chapter 16. Substrate deprivation theory ; Ellen Sidransky