1Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the newborn. Arch Dis Child Fetal Neonatal Ed, 2001,84 : F205-F210.
2Barbara K. Burton. Inborn errors of metabolism in infancy: A guide to diagnosis. Pediatrics, 1998,102 : e69.
3Nissenkorn A, Michelson M, Ben-Ieev B, et al. Inborn errors of metabolism:a cause of abnormal brain development. Neurology, 2001,56 : 1265-1272.
4Waiter JH. Inborn errors of metabolism and pregnancy. J Inherit Metab Dis ,2000,23:229-236.
5SaudubrayJM, Nassogne MC, de Lonlay P, et al. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol,2002,7:3-15.
6Martins AM. Inborn errors of metabolism:a clinical overview. Sao Paulo Med J, 1999,117:251-265.
7Bachmann C. Mechanisms of hyperammonemia. Clin Chem Lab Med ,2002,40:653-662.
8Gillis L,Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin North Am,2002, 49:203-219.
2Zhang CH, Xu KM, Dave U, et al. Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center. J Chromatogr B, 2000,746;41-44.
3Kuhara T, Shinka T, Inoue Y, et al. Pilot study of gas chromatographic - mass spectrometric screening of newborn urine for inborn errors of metabolism after treament with urease. J Chromatogr B, 1999,731 : 141 - 147.
6Filippi L, Gozzini E, Fiorini P, et al. N - carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria [J]. Neonatology ,2010 ,97 ( 3 ) : 286 - 290.
7Martinelli D, Dotta A, Massella L, et al. Cobalamin C defect presenting as severe neonatal hyperammonemia[J]. Eur J Pediatr,2011, 170(7): 887 - 890.
8Daniotti M, la Marca G, Fiorini P, et al. New developments in the treatment of hyperammonemia : Emerging use of carglumic acid [J]. Int J Gen Med,2011,4:21 -28.
9Erez A, Nagamani SC, Lee B. Argininosucciate lyase deficiency - argininosuccinic aciduria and beyond [ J ]. Am J Med Genet C Semin Med Genet ,2011,157 (1) :45 - 53.
10Jain - Ghai S, Nagamani SC, Blaser S, et al. Arginase I deficiency : Severe infangile presentation weth hyperammonemia: More common than reported [ J ] ? Mol Genet Metab,2011,104 ( 1 - 2) : 107 - 111.