Inborn Errors of Metabolism : From Neonatal Screening to Metabolic Pathways.

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.

Inborn Errors of Metabolism is an expansion on the known treatment model of IEMs, 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 screening 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.

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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.