IN-UTERO DIAGNOSIS OF SANDHOFFS DISEASE

被引：32

作者：

DESNICK, RJ

KRIVIT, W

SHARP, HL

机构：

[1] UNIV MINNESOTA,MED CTR,DEPT PEDIAT,MINNEAPOLIS,MN 55455

[2] UNIV MINNESOTA,MED CTR,DIGHT INST HUMAN GENET,MINNEAPOLIS,MN 55455

来源：

关键词：

D O I：

10.1016/0006-291X(73)90501-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：20 / 26

页数：7

共 18 条

[1] DIAGNOSIS OF GLYCOSPHINGLOPIDOSES BY URINARY-SEDIMENT ANALYSIS
DESNICK, RJ
DAWSON, G
DESNICK, SJ
SWEELEY, CC
KRIVIT, W
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1971, 284 (14) : 739 - &
[2] DESNICK RJ, IN PRESS
[3] DESNICK RJ, 1972, SPHINGOLIPIDS SPHING, P351
[4] FRIEDLAND J, 1971, P SOC EXP BIOL MED, V136, P1297
[5] HUG G, 1970, LANCET, V1, P1002
[6] GENERALIZED ACCUMULATION OF NEUTRAL GLYCOSPHINGOLIPIDS WITH GM2 GANGLIOSIDE ACCUMULATION IN BRAIN
KRIVIT, W
LEE, J
MOLLER, J
SNYDER, PD
SWEELEY, CC
SHARP, HL
WRIGHT, F
DESNICK, RJ
[J]. AMERICAN JOURNAL OF MEDICINE, 1972, 52 (06) : 763 - &
[7] LOWRY OH, 1951, J BIOL CHEM, V193, P265
[8] TAY-SACHS DISEASE - DETECTION OF HETEROZYGOTES AND HOMOZYGOTES BY SERUM HEXOSAMINIDASE ASSAY
OBRIEN, JS
OKADA, S
CHEN, A
FILLERUP, DL
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1970, 283 (01) : 15 - &
[9] TAY-SACHS DISEASE - PRENATAL DIAGNOSIS
OBRIEN, JS
OKADA, S
FILLERUP, DL
VEATH, ML
ADORNATO, B
BRENNER, PH
LEROY, JG
[J]. SCIENCE, 1971, 172 (3978) : 61 - &
[10] TAY-SACHS DISEASE - GENERALIZED ABSENCE OF A BETA-D-N-ACEYLHEXOSAMINIDASE COMPONENT
OKADA, S
OBRIEN, JS
[J]. SCIENCE, 1969, 165 (3894) : 698 - &