In utero diagnosis of Niemann-Pick disease.
作者信息
Epstein C J, Brady R O, Schneider E L, Bradley R M, Shapiro D
出版信息
Am J Hum Genet. 1971 Sep;23(5):533-5.
Abstract
摘要
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本文引用的文献
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The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue.鞘磷脂的代谢。I. 从大鼠肝脏组织中纯化鞘磷脂裂解酶及其性质
J Biol Chem. 1966 Mar 10;241(5):1081-4.
4
Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.源自尼曼-皮克病患者的组织培养物中鞘磷脂裂解酶活性缺乏。
Biochem Biophys Res Commun. 1969 Mar 10;34(5):582-8. doi: 10.1016/0006-291x(69)90777-3.
5
Fabry's disease: antenatal detection.
Science. 1971 Apr 9;172(3979):174-5. doi: 10.1126/science.172.3979.174.
6
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.
7
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.鞘磷脂的代谢。II. 尼曼-匹克病中酶缺乏的证据。
Proc Natl Acad Sci U S A. 1966 Feb;55(2):366-9. doi: 10.1073/pnas.55.2.366.
8
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.
9
Prenatal diagnosis of Tay-Sachs disease.
Lancet. 1970 Mar 21;1(7647):582-4. doi: 10.1016/s0140-6736(70)91624-7.
10
In-utero detection of type-II glycogenosis (pompe's disease).宫内检测II型糖原贮积病（庞贝氏病）。
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