The prenatal diagnosis of metabolic disorders.
作者信息
Harper P S
出版信息
J R Coll Physicians Lond. 1973 Apr;7(3):251-8.
Abstract
摘要
相似文献
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The prenatal diagnosis of metabolic disorders.代谢紊乱的产前诊断。
J R Coll Physicians Lond. 1973 Apr;7(3):251-8.
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Safety and accuracy of midtrimester amniocentesis for prenatal diagnosis of genetic disorders.孕中期羊膜穿刺术用于遗传性疾病产前诊断的安全性和准确性。
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本文引用的文献
1
Fetomaternal hemorrhage from diagnostic transabdominal amniocentesis.诊断性经腹羊膜腔穿刺术导致的胎儿-母体出血。
Am J Obstet Gynecol. 1967 Apr 15;97(8):1123-8. doi: 10.1016/0002-9378(67)90476-0.
2
Enzymes in noncultured amniotic fluid cells.未培养羊水细胞中的酶
Am J Obstet Gynecol. 1969 Mar 1;103(5):710-2. doi: 10.1016/0002-9378(69)90567-5.
3
Defective repair replication of DNA in xeroderma pigmentosum.着色性干皮病中DNA修复复制缺陷。
Nature. 1968 May 18;218(5142):652-6. doi: 10.1038/218652a0.
4
Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.人皮肤来源的组织培养中的胱硫醚合酶：同型胱氨酸尿症中的酶缺陷。
Science. 1968 May 31;160(3831):1007-9. doi: 10.1126/science.160.3831.1007.
5
Enzymes in uncultured amniotic fluid cells.
Clin Chim Acta. 1971 Feb;31(2):363-5. doi: 10.1016/0009-8981(71)90404-9.
6
Ganglioside-storage diseases.
N Engl J Med. 1971 Apr 22;284(15):893-6. doi: 10.1056/NEJM197104222841607.
7
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.一种新的脉冲标记技术在子宫内鉴定胱氨酸病杂合子基因型：初步报告
J Pediatr. 1970 Sep;77(3):468-70. doi: 10.1016/s0022-3476(70)80020-8.
8
Uroporphyrinogen 3 cosynthetase in asymptomatic carriers of congenital erythpoietic porphyria.先天性红细胞生成性卟啉病无症状携带者中的尿卟啉原Ⅲ同合成酶
Biochem Genet. 1970 Dec;4(6):719-26. doi: 10.1007/BF00486385.
9
Prenatal detection of methylmalonic acidemia.甲基丙二酸血症的产前检测。
J Pediatr. 1970 Jul;77(1):120-3. doi: 10.1016/s0022-3476(70)80054-3.
10
Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder.溶酶体酸性磷酸酶缺乏症。一种新的家族性代谢紊乱疾病。
N Engl J Med. 1970 Feb 5;282(6):302-7. doi: 10.1056/NEJM197002052820604.
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