5Yotsumoto Y, Hasegawa Y, Fukuda S, et al. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2 [ J ]. Mol Genet Metab ,2008,94 ( 1 ) :61-67. 被引量:1
6Simsek N, Bulut ET, Yalcin M. et al. A new finding in glutafic aci- demia type II : dental anomalies [ J ]. Genet Couns, 2013,24 ( 2 ) : 251-252. 被引量:1
7Purevjav E, Kimura M, Takusa Y, et al. Molecular study of electron transfer flavnprotein alpha-subunit deficiency in two Japanese chil- dren with different phenotypes of glutaric acidemia type II[ J]. Ear J Clin Invest,2002,32(9) :707-712. 被引量:1
6Baric I, Zschocke J, Christensen E, et al. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis, 1998,21 : 326-340. 被引量:1
7Kolker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I- revised recommendations. J Inherit Metab Dis,2011,34 :677- 694. 被引量:1
8Korman SH,Jakobs C,Darmin PS,et al. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients fromIsrael. Eur J Paediatr Neurol,2007,11:81-89. 被引量:1
9Greenberg CR, Duncan AM, Gregory CA, et al. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics, 1994,21:289-290. 被引量:1
10Goodman SI, Stein DE, Schlesinger S, et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I) : review and report of thirty novel mutations. Hum Mutat, 1998,12:141- 144. 被引量:1