Case of citrullinemia diagnosed by DNA analysis: Including prenatal genetic diagnosis from amniocytes of next pregnancy

被引:3
作者
Hayakawa, M
Kato, Y
Takahashi, R
Tauchi, N
机构
[1] Nagoya Univ Hosp, Matern & Perinatal Care Ctr, Shouwa Ku, Nagoya, Aichi 4668550, Japan
[2] Ogaki Municipal Hosp, Dept Pediat Cardiol & Neonatol, Ogaki, Japan
关键词
citrullinemia; gene diagnosis; prenatal diagnosis;
D O I
10.1046/j.1442-200X.2003.01687.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:196 / 198
页数:3
相关论文
共 13 条
[1]  
[Anonymous], 1989, METABOLIC BASIS INHE
[2]   CONTINUOUS VENOVENOUS HEMOFILTRATION IN THE ACUTE TREATMENT OF INBORN-ERRORS OF METABOLISM [J].
FALK, MC ;
KNIGHT, JF ;
ROY, LP ;
WILCKEN, B ;
SCHELL, DN ;
OCONNELL, AJ ;
GILLIS, J .
PEDIATRIC NEPHROLOGY, 1994, 8 (03) :330-333
[3]   VARIATION IN ARGININOSUCCINATE SYNTHETASE-ACTIVITY IN AMNIOTIC-FLUID CELL-CULTURES - IMPLICATIONS FOR PRENATAL-DIAGNOSIS OF CITRULLINEMIA [J].
JACOBY, LB ;
SHIH, VE ;
STRUCKMEYER, C ;
NIERMEIJER, MF ;
BOUE, J .
CLINICA CHIMICA ACTA, 1981, 116 (01) :1-7
[4]  
Kakinoki H, 1997, HUM MUTAT, V9, P250, DOI 10.1002/(SICI)1098-1004(1997)9:3<250::AID-HUMU6>3.3.CO
[5]  
2-K
[6]   PRENATAL-DIAGNOSIS OF CITRULLINEMIA - ELEVATED LEVELS OF CITRULLINE IN THE AMNIOTIC-FLUID IN THE 3 AFFECTED PREGNANCIES [J].
KLEIJER, WJ ;
BLOM, W ;
HUIJMANS, JGM ;
MOOYMAN, MCT ;
BERGER, R ;
NIERMEIJER, MF .
PRENATAL DIAGNOSIS, 1984, 4 (02) :113-118
[7]  
KOBAYASHI K, 1994, AM J HUM GENET, V55, P1103
[8]  
KOBAYASHI K, 1995, HUM GENET, V96, P454
[9]  
KOBAYASHI K, 1990, J BIOL CHEM, V265, P11361
[10]   A case of neonatal-onset carbamoylphosphate synthase I deficiency treated by continuous haemodiafiltration [J].
Kosho, T ;
Nakamura, T ;
Kaneko, T ;
Tamura, M .
EUROPEAN JOURNAL OF PEDIATRICS, 2000, 159 (08) :629-630