PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA BY DETERMINATION OF FUMARYLACETOACETASE IN CULTURED AMNIOTIC-FLUID CELLS

被引：20

作者：

KVITTINGEN, EA

STEINMANN, B

GITZELMANN, R

LEONARD, JV

ANDRIA, G

BORRESEN, AL

MOSSMAN, J

MICARA, G

LINDBLAD, B

机构：

[1] UNIV ZURICH,DEPT PEDIAT,DIV METAB,CH-8006 ZURICH,SWITZERLAND

[2] UNIV LONDON,INST CHILD HLTH,LONDON,ENGLAND

[3] UNIV NAPLES,FAC MED 2,DEPT PEDIAT,I-80138 NAPLES,ITALY

[4] DEPT MED CHEM,OSLO,NORWAY

[5] UNIV ROME,DEPT OBSTET & GYNECOL,I-00100 ROME,ITALY

[6] CENT LASARETTET,DEPT PEDIAT,MOLNDAL,SWEDEN

来源：

PEDIATRIC RESEARCH | 1985年 / 19卷 / 04期

关键词：

D O I：

10.1203/00006450-198519040-00002

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：334 / 337

页数：4

共 16 条

[1] DEFICIENCY OF FUMARYLACETOACETASE IN A PATIENT WITH HEREDITARY TYROSINEMIA [J].

BERGER, R ;

SMIT, GPA ;

STOKERDEVRIES, SA ;

DURAN, M ;

KETTING, D ;

WADMAN, SK .

CLINICA CHIMICA ACTA, 1981, 114 (01) :37-44

[2]

EDWARDS SW, 1955, METHOD ENZYMOL, V2, P287

[3]

FALLSTROM SP, 1979, PEDIATR RES, V13, P78, DOI 10.1203/00006450-197901000-00056

[4] PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA CONFIRMED [J].

GAGNE, R ;

LESCAULT, A ;

GRENIER, A ;

LABERGE, C .

PRENATAL DIAGNOSIS, 1982, 2 (04) :323-323

[5]

GAGNE R, 1984, NEW ENGL J MED, V310, P855

[6] PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA - MEASUREMENT OF SUCCINYLACETONE IN AMNIOTIC-FLUID [J].

GAGNE, R ;

LESCAULT, A ;

GRENIER, A ;

LABERGE, C ;

MELANCON, SB ;

DALLAIRE, L .

PRENATAL DIAGNOSIS, 1982, 2 (03) :185-188

[7] ACUTE HEREDITARY TYROSINEMIA TYPE-I - CLINICAL, BIOCHEMICAL AND HEMATOLOGICAL STUDIES IN TWINS [J].

GRAY, RGF ;

PATRICK, AD ;

PRESTON, FE ;

WHITFIELD, MF .

JOURNAL OF INHERITED METABOLIC DISEASE, 1981, 4 (01) :37-40

[8] ASSAY OF FUMARYLACETOACETATE FUMARYLHYDROLASE IN HUMAN-LIVER - DEFICIENT ACTIVITY IN A CASE OF HEREDITARY TYROSINEMIA [J].

KVITTINGEN, EA ;

JELLUM, E ;

STOKKE, O .

CLINICA CHIMICA ACTA, 1981, 115 (03) :311-319

[9]

KVITTINGEN EA, 1984, PEDIATR RES, V18, P94

[10]

KVITTINGEN EA, CLIN GENET

← 1 2 →