EVALUATION OF METABOLIC PATHWAY ACTIVITY IN CULTURED SKIN FIBROBLASTS AND BLOOD LEUKOCYTES

被引:8
作者
ROZEN, R
BUHL, S
MOHYUDDIN, F
CAILLIBOT, V
SCRIVER, CR
机构
[1] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,DEBELLE LAB BIOCHEM GENET,MONTREAL H3H 13P,QUEBEC,CANADA
[2] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,MED RES COUNCIL GRP MED GENET,MONTREAL H3H 13P,QUEBEC,CANADA
关键词
D O I
10.1016/0009-8981(77)90244-3
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:379 / 386
页数:8
相关论文
共 13 条
[1]  
BOLLUM FJ, 1959, J BIOL CHEM, V234, P2733
[2]  
CHESNEY RW, 1975, 1975 P CAN PED SOC A
[3]   GALACTOSEMIA AND GALACTONOLACTONE - FURTHER BIOCHEMICAL OBSERVATIONS [J].
FRIEDMAN, TB ;
YARKIN, RJ ;
MERRIL, CR .
SCIENCE, 1974, 183 (4126) :764-765
[4]  
GOLDMAN H, 1972, MRC PRENATAL DIAG NE, V1, P5
[5]   DETECTION OF INBORN ERRORS OF METABOLISM - GALACTOSEMIA [J].
HILL, HZ ;
PUCK, TT .
SCIENCE, 1973, 179 (4078) :1136-1139
[6]  
HILL HZ, 1974, CLIN GENET, V6, P73
[7]  
KELLEY WN, 1972, METABOLIC BASIS INHE, P969
[8]   METHYLMALONICACIDEMIA - BIOCHEMICAL HETEROGENEITY IN DEFECTS OF 5'-DEOXYADENOSYLCOBALAMIN SYNTHESIS [J].
MAHONEY, MJ ;
HART, AC ;
STEEN, VD ;
ROSENBERG, LE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (07) :2799-2803
[9]   MEASUREMENT OF INCORPORATION OF RADIOACTIVE AMINO ACIDS INTO PROTEIN BY A FILTER-PAPER DISK METHOD [J].
MANS, RJ ;
NOVELLI, GD .
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1961, 94 (01) :48-&
[10]  
ROSENBERG LE, 1972, METABOLIC BASIS INHE, P440