ENZYMATIC DEFECT IN VARIEGATE PORPHYRIA - STUDIES WITH HUMAN CULTURED SKIN FIBROBLASTS

被引:158
作者
BRENNER, DA [1 ]
BLOOMER, JR [1 ]
机构
[1] YALE UNIV,SCH MED,HOWARD HUGHES MED INST LAB,NEW HAVEN,CT 06520
关键词
D O I
10.1056/NEJM198004033021401
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:765 / 769
页数:5
相关论文
共 26 条
[11]   DECREASED LYMPHOCYTE COPROPORPHYRINOGEN-III OXIDASE ACTIVITY IN HEREDITARY COPROPORPHYRIA [J].
GRANDCHAMP, B ;
NORDMANN, Y .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1977, 74 (03) :1089-1095
[12]   CONVERSION OF COPROPORPHYRINOGEN-III TO PROTOPORPHYRIN-IX [J].
JACKSON, AH ;
GAMES, DE ;
COUCH, P ;
JACKSON, JR ;
BELCHER, RB ;
SMITH, SG .
ENZYME, 1974, 17 (1-2) :81-87
[13]   INHERITED ENZYMATIC DEFECT IN PORPHYRIA CUTANEA-TARDA - DECREASED UROPORPHYRINOGEN DECARBOXYLASE ACTIVITY [J].
KUSHNER, JP ;
BARBUTO, AJ ;
LEE, GR .
JOURNAL OF CLINICAL INVESTIGATION, 1976, 58 (05) :1089-1097
[14]  
LANGELAAN D E, 1970, Clinica Chimica Acta, V27, P453, DOI 10.1016/0009-8981(70)90298-6
[15]  
LOWRY OH, 1951, J BIOL CHEM, V193, P265
[16]   INTERMITTENT ACUTE PORPHYRIA - DEMONSTRATION OF A GENETIC DEFECT IN PORPHOBILINOGEN METABOLISM [J].
MEYER, UA ;
MARVER, HS ;
STRAND, LJ ;
REES, AC ;
DOSS, M .
NEW ENGLAND JOURNAL OF MEDICINE, 1972, 286 (24) :1277-&
[17]   VARIEGATE PORPHYRIA [J].
MUSTAJOKI, P .
ANNALS OF INTERNAL MEDICINE, 1978, 89 (02) :238-244
[18]   ENZYMATIC DEFECTS IN HEPATIC PORPHYRIA - PRELIMINARY OBSERVATIONS IN PATIENTS WITH PORPHYRIA CUTANEA-TARDA AND VARIEGATE PORPHYRIA [J].
PIMSTONE, NR ;
BLEKKENHORST, G ;
EALES, L .
ENZYME, 1973, 16 (1-6) :354-366
[19]  
POULSON R, 1976, J BIOL CHEM, V251, P3730
[20]  
POULSON R, 1975, J BIOL CHEM, V250, P1269