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
[81]   STUDIES ON CELL LINES DEVELOPED FROM TISSUES OF PATIENTS WITH GALACTOSEMIA [J].
KROOTH, RS ;
WEINBERG, AN .
JOURNAL OF EXPERIMENTAL MEDICINE, 1961, 113 (06) :1155-&
[82]  
KYRIAKIDES EC, 1970, PEDIATRICS, V46, P431
[83]   WOLMANS DISEASE . DEFICIENCY OF E600-RESISTANT ACID ESTERASE ACTIVITY WITH STORAGE OF LIPIDS IN LYSOSOMES [J].
LAKE, BD ;
PATRICK, AD .
JOURNAL OF PEDIATRICS, 1970, 76 (02) :262-+
[84]   EVALUATION OF A HETEROZYGOTE TEST FOR MAPLE SYRUP URINE DISEASE IN LEUCOCYTES AND CULTURED FIBROBLASTS [J].
LANGENBECK, U ;
RUDIGER, HW ;
SCHULZES.M ;
KELLER, W ;
BRACKERTZ, D ;
GOEDDE, HW .
HUMANGENETIK, 1971, 11 (04) :304-+
[85]   STUDIES ON LEUKOCYTE BRANCHER ENZYME ACTIVITY IN A FAMILY WITH TYPE 4 GLYCOGENOSIS [J].
LEGUM, CP ;
NITOWSKY, HM .
JOURNAL OF PEDIATRICS, 1969, 74 (01) :84-&
[86]  
LEROY J, PERSONAL COMMUNICATI
[87]  
Leroy J G, 1970, Nature, V226, P553, DOI 10.1038/226553a0
[88]   MUTANT ENZYMATIC AND CYTOLOGICAL PHENOTYPES IN CULTURED HUMAN FIBROBLASTS [J].
LEROY, JG ;
DEMARS, RI .
SCIENCE, 1967, 157 (3790) :804-&
[89]  
LEROY JG, 1969, B EUR SOC HUM GENET, V3, P40
[90]  
LEROY JG, 1970, NEW ENGL J MED, V283, P598