2Neto EC,Schulte J,Rubim R,et al.Newborn screening for biotinidased efficiency in Brazil:biochemical and molecular characterizations.Braz J Med Biol Res,2004,37:295-299.
3Suzuki Y,Yang X,Aoki Y,et al.Mutations in the holocarboxylase synthetase gene HLCS.Hum Mutat,2005,26:285-290.
4Han LS,Ye J,Qiu WJ,et al.Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report.J Inherit Metab Dis,2007,30:507-514.
5Wolf B,Jensen KP,Barshop B,et al.Biotinidase deficiency:novel mutations and their biochemical and clinical correlates.Hum Mutat,2005,25:413.
6Wolf B,Hsia YE,Sweetman L,et al.Multiple carboxylase deficiency:clinical and biochemical improvement following neonatal biotin treatment.Pediatrics,1981,68:113-118.
8Suzuki Y,Aoki Y,Ishida Y,et al.Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.Nat Genet,1994,8:122-128.
9Knight HC,Reynolds TR,Meyers GA,et al.Structure of the human biotinidase gent.Mamrn Genome,1998,9:327-330.
10Yang X,Aoki Y,Li X,et al.Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.Hum Genet,2001,109:526-534.