DEFICIENT FUMARYLACETOACETATE FUMARYLHYDROLASE ACTIVITY IN LYMPHOCYTES AND FIBROBLASTS FROM PATIENTS WITH HEREDITARY TYROSINEMIA

被引：16

作者：

KVITTINGEN, EA ^{[1
]}

HALVORSEN, S ^{[1
]}

JELLUM, E ^{[1
]}

机构：

[1] ULLEVAL HOSP,DEPT PEDIAT,OSLO,NORWAY

来源：

PEDIATRIC RESEARCH | 1983年 / 17卷 / 07期

关键词：

D O I：

10.1203/00006450-198307000-00005

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：541 / 544

页数：4

共 11 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] PURIFICATION OF DIKETO ACID HYDROLASE FROM RAT LIVER AND ITS USE FOR ENZYMIC DETERMINATION OF 3,5-DIOXOHEXANOATE (TRIACETATE) [J].

BROCK, DJH ;

WILLIAMSON, DH .

BIOCHEMICAL JOURNAL, 1968, 110 (04) :677-+

[3]

EDWARDS SW, 1955, METHODS ENZYMOLOGY, P287

[4]

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

[5] 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

[6] 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

[7]

HALVORSEN S, 1980, NEONATAL SCREENING I, P45

[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, 1981, PEDIATR RES, V15, P1182

[10] ENZYMIC DEFECTS IN HEREDITARY TYROSINEMIA [J].

LINDBLAD, B ;

LINDSTEDT, S ;

STEEN, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (10) :4641-4645

← 1 2 →