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  1. 学術雑誌論文
  2. 琉球医学会
  3. 琉球大学保健学医学雑誌
  4. 2巻1号
  1. 部局別インデックス
  2. その他

[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

http://hdl.handle.net/20.500.12000/0002016437
http://hdl.handle.net/20.500.12000/0002016437
ac5a729d-777d-46a4-b1be-699809d964bc
名前 / ファイル ライセンス アクション
v2p67.pdf v2p67.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2014-07-18
タイトル
タイトル [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
言語 ja
タイトル
タイトル Detection of carriers of hereditary metabolic disorders and their antenatal detection : report of 3 cases
言語 en
作成者 外間, 登美子

× 外間, 登美子

ja 外間, 登美子

Search repository
吉田, 栄子

× 吉田, 栄子

ja 吉田, 栄子

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馬場, 泰光

× 馬場, 泰光

ja 馬場, 泰光

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安村, 浩

× 安村, 浩

ja 安村, 浩

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平山, 清武

× 平山, 清武

ja 平山, 清武

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田中, 洋

× 田中, 洋

ja 田中, 洋

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Hokama, Tomiko

× Hokama, Tomiko

en Hokama, Tomiko

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Yoshida, Eiko

× Yoshida, Eiko

en Yoshida, Eiko

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Baba, Yasumitu

× Baba, Yasumitu

en Baba, Yasumitu

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Yasumura, Hiroshi

× Yasumura, Hiroshi

en Yasumura, Hiroshi

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Hirayama, Kiyotake

× Hirayama, Kiyotake

en Hirayama, Kiyotake

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Tanaka, Hiroshi

× Tanaka, Hiroshi

en Tanaka, Hiroshi

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アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 ja
権利情報 琉球医学会
内容記述
内容記述タイプ Other
内容記述 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.
内容記述
内容記述タイプ Other
内容記述 論文
出版者
言語 ja
出版者 琉球大学保健学部
出版者
言語 en
出版者 College of Health Sciences, University of the Ryukyus
言語
言語 jpn
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 0285-9270
収録物識別子
収録物識別子タイプ NCID
収録物識別子 AN00250763
収録物名
言語 ja
収録物名 琉球大学保健学医学雑誌=Ryukyu University Journal of Health Sciences and Medicine
書誌情報
巻 2, 号 1, p. 67-62
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