PRENATAL-DIAGNOSIS OF NEPHROPATHIC CYSTINOSIS - PREGNANCY AT RISK ASCERTAINED THROUGH HETEROZYGOTE DIAGNOSIS OF PARENTS

被引:4
作者
BOMAN, H [1 ]
SCHNEIDER, JA [1 ]
机构
[1] UNIV CALIF SAN DIEGO,SCH MED,DEPT PEDIAT,LA JOLLA,CA 92093
来源
ACTA PAEDIATRICA SCANDINAVICA | 1981年 / 70卷 / 03期
关键词
D O I
10.1111/j.1651-2227.1981.tb16569.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:389 / 393
页数:5
相关论文
共 8 条
  • [1] KABACK M M, 1973, Hospital Practice, V8, P107
  • [2] OSHIMA RG, 1974, J BIOL CHEM, V249, P6033
  • [3] INCREASED CYSTINE IN LEUKOCYTES FROM INDIVIDUALS HOMOZYGOUS AND HETEROZYGOUS FOR CYSTINOSIS
    SCHNEIDER, JA
    BRADLEY, K
    SEEGMILLER, JE
    [J]. SCIENCE, 1967, 157 (3794) : 1321 - +
  • [4] PRENATAL DIAGNOSIS OF CYSTINOSIS
    SCHNEIDER, JA
    VERROUST, FM
    KROLL, WA
    GARVIN, AJ
    HORGER, EO
    WONG, VG
    SPEAR, GS
    JACOBSON, C
    PELLETT, OL
    BECKER, FLA
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1974, 290 (16) : 878 - 882
  • [5] SCHNEIDER JA, 1978, METABOLIC BASIS INHE, P1660
  • [6] IDENTIFICATION OF HETEROZYGOUS GENOTYPE FOR CYSTINOSIS IN UTERO BY A NEW PULSE-LABELING TECHNIQUE - PRELIMINARY REPORT
    SCHULMAN, JD
    FUJIMOTO, WY
    BRADLEY, KH
    SEEGMILLER, JE
    [J]. JOURNAL OF PEDIATRICS, 1970, 77 (03) : 468 - +
  • [7] PRENATAL DIAGNOSIS OF CYSTINOSIS
    STATES, B
    BLAZER, B
    HARRIS, D
    SEGAL, S
    [J]. JOURNAL OF PEDIATRICS, 1975, 87 (04) : 558 - 562
  • [8] CYSTINOTIC FIBROBLASTS ACCUMULATE CYSTINE FROM INTRACELLULAR PROTEIN DEGRADATION
    THOENE, JG
    OSHIMA, RG
    RITCHIE, DG
    SCHNEIDER, JA
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (10) : 4505 - 4507