RAPID PRENATAL AND POSTNATAL DETECTION OF INBORN-ERRORS OF PROPIONATE, METHYLMALONATE, AND COBALAMIN METABOLISM - SENSITIVE ASSAY USING CULTURED-CELLS

被引：96

作者：

WILLARD, HF

AMBANI, LM

HART, AC

MAHONEY, MJ

ROSENBERG, LE

机构：

[1] YALE UNIV,DEPT HUMAN GENET,NEW HAVEN,CT 06510

[2] YALE UNIV,DEPT PEDIAT,NEW HAVEN,CT 06510

来源：

HUMAN GENETICS | 1976年 / 34卷 / 03期

关键词：

D O I：

10.1007/BF00295291

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：277 / 283

页数：7

相关论文

共 12 条

[1] FLUOROMETRIC ASSAY OF PROTEINS IN NANOGRAM RANGE
BOHLEN, P
STEIN, S
DAIRMAN, W
UDENFRIEND, S
[J]. ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 155 (01) : 213 - 220
[2] GENETIC COMPLEMENTATION IN HETEROKARYONS OF HUMAN FIBROBLASTS DEFECTIVE IN COBALAMIN METABOLISM
GRAVEL, RA
MAHONEY, MJ
RUDDLE, FH
ROSENBERG, LE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (08) : 3181 - 3185
[3] HILL HZ, 1974, CLIN GENET, V6, P79
[4] DETECTION OF INBORN ERRORS OF METABOLISM - GALACTOSEMIA
HILL, HZ
PUCK, TT
[J]. SCIENCE, 1973, 179 (4078) : 1136 - 1139
[5] EFFECT OF PH ON INCORPORATION OF GALACTOSE BY A NORMAL HUMAN CELL LINE AND CELL LINES FROM PATIENTS WITH DEFECTIVE GALACTOSE METABOLISM
HILL, HZ
[J]. JOURNAL OF CELLULAR PHYSIOLOGY, 1976, 87 (03) : 313 - 319
[6] HILL HZ, 1974, CLIN GENET, V6, P73
[7] METHYLMALONICACIDEMIA - BIOCHEMICAL HETEROGENEITY IN DEFECTS OF 5'-DEOXYADENOSYLCOBALAMIN SYNTHESIS
MAHONEY, MJ
HART, AC
STEEN, VD
ROSENBERG, LE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (07) : 2799 - 2803
[8] MAHONEY MJ, 1975, ACTA PAEDIATR SCAND, V64, P44
[9] CONGENITAL METHYLMALONIC ACIDEMIA - ENZYMATIC EVIDENCE FOR 2 FORMS OF DISEASE
MORROW, G
BARNESS, LA
CARDINALE, GJ
ABELES, RH
FLAKS, JG
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1969, 63 (01) : 191 - +
[10] MORROW G, IN PRESS