Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

被引:6
作者
Busquets, C
Coll, MJ
Christensen, E
Campistol, J
Clusellas, N
Vilaseca, MA
Ribes, A
机构
[1] Corp Sanit, Inst Bioquim Clin, E-08028 Barcelona, Spain
[2] Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark
[3] Hosp St Joan Deu, Barcelona, Spain
关键词
D O I
10.1023/A:1005359920675
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:243 / 246
页数:4
相关论文
共 8 条
[1]  
Biery BJ, 1996, AM J HUM GENET, V59, P1006
[2]   GLUTARIC ACIDURIA TYPE-I - UNUSUAL BIOCHEMICAL PRESENTATION [J].
CAMPISTOL, J ;
RIBES, A ;
ALVAREZ, L ;
CHRISTENSEN, E ;
MILLINGTON, DS .
JOURNAL OF PEDIATRICS, 1992, 121 (01) :83-86
[3]   PRENATAL-DIAGNOSIS OF GLUTARYL-COA DEHYDROGENASE-DEFICIENCY - EXPERIENCE USING 1ST-TRIMESTER CHORIONIC VILLUS SAMPLING [J].
CHRISTENSEN, E .
PRENATAL DIAGNOSIS, 1994, 14 (05) :333-336
[4]   Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion [J].
Christensen, E ;
Ribes, A ;
Busquets, C ;
Pineda, M ;
Duran, M ;
PollThe, BT ;
Greenberg, CR ;
Leffers, H ;
Schwartz, M .
JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (03) :383-386
[5]  
GOODMAN SI, 1980, AM J HUM GENET, V32, P695
[6]  
GOODMAN SI, 1995, HUM MOL GENET, V4, P1493
[7]   CLONING, STRUCTURE, AND CHROMOSOME LOCALIZATION OF THE MOUSE GLUTARYL-COA DEHYDROGENASE GENE [J].
KOELLER, DM ;
DIGIULIO, KA ;
ANGELONI, SV ;
DOWLER, LL ;
FRERMAN, FE ;
WHITE, RA ;
GOODMAN, SI .
GENOMICS, 1995, 28 (03) :508-512
[8]   VARIABLE CLINICAL AND BIOCHEMICAL PRESENTATION OF 7 SPANISH CASES WITH GLUTARYL-COA-DEHYDROGENASE DEFICIENCY [J].
MERINERO, B ;
PEREZCERDA, C ;
FONT, LM ;
GARCIA, MJ ;
APARICIO, M ;
LORENZO, G ;
PARDO, MM ;
GARZO, C ;
MARTINEZBERMEJO, A ;
CASTROVIEJO, IP ;
CHRISTENSEN, E ;
UGARTE, M .
NEUROPEDIATRICS, 1995, 26 (05) :238-242