03491nam 2200625 450 991046371280332120200520144314.00-19-939850-X0-19-979768-4(CKB)2670000000570619(EBL)1814968(SSID)ssj0001347662(PQKBManifestationID)11776005(PQKBTitleCode)TC0001347662(PQKBWorkID)11362207(PQKB)10259107(MiAaPQ)EBC1814968(StDuBDS)EDZ0001043410(Au-PeEL)EBL1814968(CaPaEBR)ebr10952678(CaONFJC)MIL650449(OCoLC)893333236(EXLCZ)99267000000057061920141025h20152015 uy 0engur|n|---|||||txtccrInborn errors of metabolism from neonatal screening to metabolic pathways /edited by Brendan H. Lee and Fernando ScagliaOxford, [England] ;New York, New York :Oxford University Press,2015.©20151 online resource (393 p.)Oxford Monographs on Medical GeneticsDescription based upon print version of record.0-19-979758-7 1-322-19169-7 Includes bibliographical references and index.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 Metabolism11 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 PlateTexts 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 conOxford Monographs on Medical GeneticsMetabolism, Inborn errors ofElectronic books.Metabolism, Inborn errors of.616.3/9042Lee BrendanScaglia FernandoMiAaPQMiAaPQMiAaPQBOOK9910463712803321Inborn errors of metabolism714291UNINA