| Description |
1 online resource (393 pages). |
| Physical Medium |
polychrome |
| Description |
text file |
| Series |
Oxford monographs on medical genetics ; 64
|
|
Oxford monographs on medical genetics ; no. 64.
|
| Bibliography |
Includes bibliographical references and index. |
| Contents |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism. |
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11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate. |
| Summary |
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. |
| Local Note |
eBooks on EBSCOhost EBSCO eBook Subscription Academic Collection - North America |
| Subject |
Metabolism, Inborn errors of.
|
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Metabolism, Inborn errors of. |
| Genre/Form |
Electronic books.
|
| Added Author |
Lee, Brendan, editor.
|
|
Scaglia, Fernando, editor.
|
| Added Title |
Inborn errors of metabolism (Lee)
|
| Other Form: |
Print version: Inborn errors of metabolism (Lee). Inborn errors of metabolism : from neonatal screening to metabolic pathways. Oxford, [England] ; New York, New York : Oxford University Press, ©2015 x, 366 pages 9780199797585 |
| ISBN |
9780199797684 (e-book) |
|
0199797684 (e-book) |
|
1322191697 |
|
9781322191690 |
|
9780199797585 |
|
0199797587 |
| Standard No. |
99961437380 |
|
