@article{oai:u-ryukyu.repo.nii.ac.jp:02016437,
 author = {外間, 登美子 and 吉田, 栄子 and 馬場, 泰光 and 安村, 浩 and 平山, 清武 and 田中, 洋 and Hokama, Tomiko and Yoshida, Eiko and Baba, Yasumitu and Yasumura, Hiroshi and Hirayama, Kiyotake and Tanaka, Hiroshi},
 issue = {1},
 journal = {琉球大学保健学医学雑誌＝Ryukyu University Journal of Health Sciences and Medicine},
 note = {An application of the enzymatic assay is suggested in the detection of hereditary metabolic disorders such as Wolman's disease and Tay-Sachs disease.. The parents of the patient with Wolman's disease had intermediate level of acid-esterase activity of leucocytes between the level of affected children and that of normal adult subjects. The activities of hexosaeminidase-A of fibroblasts delivered from the father of the patient with Tay-Sachs disease showed intermediate level, but culture of fibroblast from mother was not successful. The activities of HGPRT of the mother of the patient with Lesch-Nyhan syndrome was normal. Amniocentesis was carried out on the mother of the patient with Tay-Sachs disease at the second and third pregnancy for antenatal decection. Although the culture of amniotic fluid cells was not successful at the second pregnancy, the activities of hexosaminidase-A of cultured amniofic fluid at the third pregnancy was within normal range. In this paper, several problems of genetic counseling in our clinic were discussed using these methods for detection of carriers and antenatal detection of hereditary metabolic disorders. It was emphasized that nessecity of assistance of paramedical staffs for following up the each case., 論文},
 pages = {67--62},
 title = {[原著]先天性代謝異常症の保因者診断と出生前診断 : 自験例を中心として},
 volume = {2}
}