STABLE ISOTOPE-DILUTION ANALYSIS OF ISOVALERYLGLYCINE IN AMNIOTIC-FLUID AND URINE AND ITS APPLICATION FOR THE PRENATAL-DIAGNOSIS OF ISOVALERIC ACIDEMIA

被引：23

作者：

HINE, DG

HACK, AM

GOODMAN, SI

TANAKA, K

机构：

[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,333 CEDAR ST,POB 3333,NEW HAVEN,CT 06510

[2] UNIV COLORADO,SCH MED,DEPT PEDIAT,DENVER,CO 80262

来源：

PEDIATRIC RESEARCH | 1986年 / 20卷 / 03期

关键词：

D O I：

10.1203/00006450-198603000-00005

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：222 / 226

页数：5

共 22 条

[1] ISOVALERYLGLUCURONIDE, A NEW URINARY METABOLITE IN ISOVALERIC ACIDEMIA - IDENTIFICATION PROBLEMS DUE TO REARRANGEMENT REACTIONS [J].

DORLAND, L ;

DURAN, M ;

WADMAN, SK ;

NIEDERWIESER, A ;

BRUINVIS, L ;

KETTING, D .

CLINICA CHIMICA ACTA, 1983, 134 (1-2) :77-83

[2] COMPLEMENTATION STUDIES OF ISOVALERIC ACIDEMIA AND GLUTARIC ACIDURIA TYPE-II USING CULTURED SKIN FIBROBLASTS [J].

DUBIEL, B ;

DABROWSKI, C ;

WETTS, R ;

TANAKA, K .

JOURNAL OF CLINICAL INVESTIGATION, 1983, 72 (05) :1543-1552

[3] FLUOROMETRIC ASSAY OF ACYL-COA DEHYDROGENASES IN NORMAL AND MUTANT HUMAN-FIBROBLASTS [J].

FRERMAN, FE ;

GOODMAN, SI .

BIOCHEMICAL MEDICINE, 1985, 33 (01) :38-44

[4] THE IDENTIFICATION AND THE EXCRETION PATTERN OF ISOVALERYL GLUCURONIDE IN THE URINE OF PATIENTS WITH ISOVALERIC ACIDEMIA [J].

HINE, DG ;

TANAKA, K .

PEDIATRIC RESEARCH, 1984, 18 (06) :508-512

[5] STABLE ISOTOPE-DILUTION ANALYSIS OF GALACTITOL IN AMNIOTIC-FLUID - AN ACCURATE APPROACH TO THE PRENATAL-DIAGNOSIS OF GALACTOSEMIA [J].

JAKOBS, C ;

WARNER, TG ;

SWEETMAN, L ;

NYHAN, WL .

PEDIATRIC RESEARCH, 1984, 18 (08) :714-718

[6] PERINATAL DEVELOPMENT OF, AND EFFECT OF CHEMICAL PRETREATMENT ON, GLYCINE N-ACYLTRANSFERASE ACTIVITIES IN LIVER AND KIDNEY OF RABBIT AND RAT [J].

JAMES, MO ;

BEND, JR .

BIOCHEMICAL JOURNAL, 1978, 172 (02) :293-299

[7] 3-HYDROXYISOHEPTANOIC ACID - A NEW METABOLITE IN ISOVALERIC ACIDEMIA [J].

LEHNERT, W .

CLINICA CHIMICA ACTA, 1981, 113 (01) :101-103

[8] 4-HYDROXYISOVALERIC ACID - A NEW METABOLITE IN ISOVALERIC ACIDEMIA [J].

LEHNERT, W ;

NIEDERHOFF, H .

EUROPEAN JOURNAL OF PEDIATRICS, 1981, 136 (03) :281-283

[9] EXCRETION OF N-ISOVALERYLGLUTAMIC ACID IN ISOVALERIC ACIDEMIA [J].

LEHNERT, W .

CLINICA CHIMICA ACTA, 1981, 116 (02) :249-252

[10] ISOTOPE-DILUTION ANALYSIS OF METHYLCITRIC ACID IN AMNIOTIC-FLUID FOR THE PRENATAL-DIAGNOSIS OF PROPIONIC AND METHYLMALONIC ACIDEMIA [J].

NAYLOR, G ;

SWEETMAN, L ;

NYHAN, WL ;

HORNBECK, C ;

GRIFFITHS, J ;

MORCH, L ;

BRANDANGE, S .

CLINICA CHIMICA ACTA, 1980, 107 (03) :175-183

← 1 2 3 →