LEADER 03457nam 2200613 450 001 9910787948803321 005 20230807204334.0 010 $a0-19-939850-X 010 $a0-19-979768-4 035 $a(CKB)2670000000570619 035 $a(EBL)1814968 035 $a(SSID)ssj0001347662 035 $a(PQKBManifestationID)11776005 035 $a(PQKBTitleCode)TC0001347662 035 $a(PQKBWorkID)11362207 035 $a(PQKB)10259107 035 $a(MiAaPQ)EBC1814968 035 $a(StDuBDS)EDZ0001043410 035 $a(Au-PeEL)EBL1814968 035 $a(CaPaEBR)ebr10952678 035 $a(CaONFJC)MIL650449 035 $a(OCoLC)893333236 035 $a(EXLCZ)992670000000570619 100 $a20141025h20152015 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aInborn errors of metabolism $efrom neonatal screening to metabolic pathways /$fedited by Brendan H. Lee and Fernando Scaglia 210 1$aOxford, [England] ;$aNew York, New York :$cOxford University Press,$d2015. 210 4$dİ2015 215 $a1 online resource (393 p.) 225 1 $aOxford Monographs on Medical Genetics 300 $aDescription based upon print version of record. 311 $a0-19-979758-7 311 $a1-322-19169-7 320 $aIncludes bibliographical references and index. 327 $aCover; 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 327 $a11 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 330 $aTexts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that con 410 0$aOxford Monographs on Medical Genetics 606 $aMetabolism, Inborn errors of 615 0$aMetabolism, Inborn errors of. 676 $a616.3/9042 702 $aLee$b Brendan 702 $aScaglia$b Fernando 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910787948803321 996 $aInborn errors of metabolism$9714291 997 $aUNINA