PRENATAL-DIAGNOSIS OF 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA BY GC-MS AND ENZYMOLOGY ON CULTURED AMNIOCYTES AND CHORIONIC VILLI

被引：4

作者：

CHALMERS, RA ^{[1
]}

TRACEY, BM ^{[1
]}

MISTRY, J ^{[1
]}

STACEY, TE ^{[1
]}

MCFADYEN, IR ^{[1
]}

机构：

[1] MRC,CLIN RES CTR,HARROW HA1 3UJ,MIDDX,ENGLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1989年 / 12卷 / 03期

关键词：

D O I：

10.1007/BF01799219

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：286 / 292

页数：7

共 13 条

[1]

CHALMERS RA, 1985, PEDIATR RES, V19, P1075, DOI 10.1203/00006450-198510000-00041

[2]

CHALMERS RA, 1979, CLIN SCI, V57, pP25

[3]

CHALMERS RA, 1988, 26TH P S SOC STUD IN

[4]

CLINKENBEARD KD, 1975, J BIOL CHEM, V250, P3108

[5] 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

[6] 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY - POSTNATAL MANAGEMENT FOLLOWING PRENATAL DIAGNOSIS BY ANALYSIS OF MATERNAL URINE [J].

DURAN, M ;

SCHUTGENS, RBH ;

KETEL, A ;

HEYMANS, H ;

BERNTSSEN, MWJ ;

KETTING, D ;

WADMAN, SK .

JOURNAL OF PEDIATRICS, 1979, 95 (06) :1004-1007

[7] 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY - REPORT OF 5 NEW PATIENTS [J].

GIBSON, KM ;

BREUER, J ;

KAISER, K ;

NYHAN, WL ;

MCCOY, EE ;

FERREIRA, P ;

GREENE, CL ;

BLITZER, MG ;

SHAPIRA, E ;

REVERTE, F ;

CONDE, C ;

BAGNELL, P ;

COLE, DEC .

JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (01) :76-87

[8] 3-Hydroxy-3-Methylglutaric Aciduria [J].

Greene, Carol L. ;

Cann, Howard M. ;

Robinson, Brian H. ;

Gibson, Kenneth M. ;

Sweetman, Lawrence ;

Holm, Jan ;

Nyhan, William L. .

JOURNAL OF NEUROGENETICS, 1984, 1 (02) :165-173

[9] STABLE ISOTOPE-DILUTION ANALYSIS OF 3-HYDROXYISOVALERIC ACID IN AMNIOTIC-FLUID - CONTRIBUTION TO THE PRENATAL-DIAGNOSIS OF INHERITED DISORDERS OF LEUCINE CATABOLISM [J].

JAKOBS, C ;

SWEETMAN, L ;

NYHAN, WL ;

PACKMAN, S .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (01) :15-20

[10]

SOVIK O, 1984, AM J HUM GENET, V36, P791

← 1 2 →