PRENATAL DIAGNOSIS OF INBORN ERRORS OF METABOLISM

被引:34
作者
MILUNSKY, A
LITTLEFIELD, JW
机构
来源
ANNUAL REVIEW OF MEDICINE | 1972年 / 23卷 / 05期
关键词
D O I
10.1146/annurev.me.23.020172.000421
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:57 / +
页数:1
相关论文
共 189 条
[11]   DEMONSTRATION OF A DEFICIENCY OF GLUCOCEREBROSIDE-CLEAVING ENZYME IN GAUCHERS DISEASE [J].
BRADY, RO ;
KANFER, JN ;
BRADLEY, RM ;
SHAPIRO, D .
JOURNAL OF CLINICAL INVESTIGATION, 1966, 45 (07) :1112-&
[12]  
BRADY RO, 1971, SCIENCE, V172, P175
[13]   CHARACTERIZATION OF FACTOR DEFICIENT IN HUNTER SYNDROME BY POLYACRYLAMIDE GEL ELECTROPHORESIS [J].
CANTZ, M ;
CHRAMBACH, A ;
NEUFELD, EF .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1970, 39 (05) :936-+
[14]   PH AS A DETERMINANT OF CELLULAR GROWTH AND CONTACT INHIBITION [J].
CECCARIN.C ;
EAGLE, H .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1971, 68 (01) :229-&
[15]  
CHAYOTH R, 1967, ISRAEL J MED SCI, V3, P427
[16]   DEFECTIVE REPAIR REPLICATION OF DNA IN XERODERMA PIGMENTOSUM [J].
CLEAVER, JE .
NATURE, 1968, 218 (5142) :652-&
[17]  
CLEAVER JE, PERSONAL COMMUNICATI
[18]  
COLOMBO JP, 1971, MONOGRAPHS PAEDIATRI, V1
[19]  
COX RP, 1970, LANCET, V1, P893
[20]   METABOLISM OF LEUCINE IN TISSUE CULTURE OF SKIN FIBROBLASTS OF MAPLE-SYRUP-URINE DISEASE [J].
DANCIS, J ;
LEVITZ, M ;
HUTZLER, J ;
JANSEN, V .
BIOCHIMICA ET BIOPHYSICA ACTA, 1963, 77 (03) :523-&