Prenatal diagnosis of guanidinoacetate methyltransferase deficiency:: Increased guanidinoacetate concentrations in amniotic fluid

被引:9
作者
Cheillan, D
Salomons, GS
Acquaviva, C
Boisson, C
Roth, P
Cordier, MP
François, L
Jakobs, C
Vianey-Saban, C
机构
[1] Hop Debrousse, Serv Biochim Pediat, F-69322 Lyon 5, France
[2] Hop Debrousse, Serv Neuropediat, F-69322 Lyon, France
[3] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands
[4] Hop Croix Rousse, Unite Biol Foetomaternelle, Ctr Biol Nord, F-69317 Lyon, France
[5] Hop Edouard Herriot, Ctr Pluridisciplinaire Diagnost Prenatal, Lyon, France
关键词
D O I
10.1373/clinchem.2005.065185
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:775 / 777
页数:3
相关论文
共 5 条
[1]  
Carducci C, 2002, CLIN CHEM, V48, P1772
[2]   Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry [J].
Cognat, SB ;
Cheillan, D ;
Piraud, M ;
Roos, B ;
Jakobs, C ;
Viany-Saban, C .
CLINICAL CHEMISTRY, 2004, 50 (08) :1459-1461
[3]   Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation [J].
Schulze, A ;
Ebinger, F ;
Rating, D ;
Mayatepek, E .
MOLECULAR GENETICS AND METABOLISM, 2001, 74 (04) :413-419
[4]   Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism [J].
Stromberger, C ;
Bodamer, OA ;
Stöckler-Ipsiroglu, S .
JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (2-3) :299-308
[5]   An accurate stable isotope dilution gas chromatographic mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency [J].
Struys, EA ;
Jansen, EEW ;
ten Brink, HJ ;
Verhoeven, NM ;
van der Knaap, MS ;
Jakobs, C .
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS, 1998, 18 (4-5) :659-665