Antenatal detection of genetic enzyme defects.
作者信息
Benson P F
出版信息
Proc R Soc Med. 1971 Nov;64(11):1137-9. doi: 10.1177/003591577106401109.
Abstract
摘要
相似文献
1
Antenatal detection of genetic enzyme defects.产前基因酶缺陷检测。
Proc R Soc Med. 1971 Nov;64(11):1137-9. doi: 10.1177/003591577106401109.
2
[Prenatal diagnosis of metabolic abnormalities in cell cultures (author's transl)].细胞培养中代谢异常的产前诊断（作者译）
MMW Munch Med Wochenschr. 1975 Oct 24;117(43):1725-30.
3
Prenatal genetic diagnosis. 3.产前基因诊断。3.
N Engl J Med. 1970 Dec 31;283(27):1498-504. doi: 10.1056/NEJM197012312832705.
4
Role of amniocentesis in the intrauterine detection of genetic disorders.羊膜穿刺术在子宫内检测遗传疾病中的作用。
N Engl J Med. 1970 Mar 12;282(11):596-9. doi: 10.1056/NEJM197003122821105.
5
Prenatal genetic diagnosis (second of three parts).产前基因诊断（共三部分，第二部分）
N Engl J Med. 1970 Dec 24;283(26):1441-7. doi: 10.1056/NEJM197012242832605.
6
[Antenatal detection of genetic diseases by study of the amniotic fluid].[通过羊水研究进行产前遗传病检测]
Nord Med. 1971 Oct 7;86(40):1141-7.
7
Present status of intrauterine diagnosis of genetic defects.遗传缺陷的宫内诊断现状
Am J Obstet Gynecol. 1974 Mar 1;118(5):718-46. doi: 10.1016/s0002-9378(16)33747-4.
8
Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch-Nyhan and Tay-Sachs patients and amniotic fluid cells.用于分析来自正常、莱施-尼汉病和泰-萨克斯病患者的成纤维细胞集落培养物以及羊水细胞的快速组织培养和微生物化学方法。
Clin Genet. 1973;4(5):376-80. doi: 10.1111/j.1399-0004.1973.tb01163.x.
9
Utilization of electron microscopy in the prenatal diagnosis of genetic disease.电子显微镜在遗传病产前诊断中的应用。
Hum Hered. 1977;27(1):22-37. doi: 10.1159/000152849.
10
Intrauterine diagnosis of fetal disorders.胎儿疾病的宫内诊断
Paediatr Univ Tokyo. 1970 Dec;18:79-87.
本文引用的文献
1
Increased free-cystine content of fibroblasts cultured from patients with cystinosis.胱氨酸病患者培养的成纤维细胞中游离胱氨酸含量增加。
Biochem Biophys Res Commun. 1967 Nov 30;29(4):527-31. doi: 10.1016/0006-291x(67)90516-5.
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
Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid.利用源自羊水的培养人胎儿细胞的酶发育模式。
Biochem Genet. 1968 Sep;2(2):119-26. doi: 10.1007/BF01458711.
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
The antepartum diagnosis of genetic diseases.遗传性疾病的产前诊断。
J Pediatr. 1968 Feb;72(2):301-2. doi: 10.1016/s0022-3476(68)80331-2.
6
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.
7
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.莱施-奈恩综合征：通过产前诊断进行预防控制。
Science. 1970 Aug 14;169(3946):688-9. doi: 10.1126/science.169.3946.688.
8
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.
9
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.
10
Prenatal diagnosis of adrenogenital syndrome by amniocentesis.通过羊膜穿刺术对肾上腺性征异常综合征进行产前诊断。
J Pediatr. 1969 Dec;75(6):977-82. doi: 10.1016/s0022-3476(69)80334-3.
Zotero 插件