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Inborn errors of metabolism
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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 con
| Title |
Inborn errors of metabolism : from neonatal screening to metabolic pathways / edited by Brendan H. Lee and Fernando Scaglia. |
|---|---|
| Edition |
1st ed. |
| Publisher |
Oxford, [England] New York, New York : Oxford University Press |
| Creation Date |
2015 |
| Notes |
Description based upon print version of record. Includes bibliographical references and index. English |
| Content |
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 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 |
| Series |
Oxford Monographs on Medical Genetics |
| Extent |
1 online resource (393 p.) |
| Language |
English |
| Copyright Date |
©2015 |
| National Library system number |
997010702579005171 |
MARC RECORDS
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