| 中文名稱 | GALACTOCEREBROSIDOSIS，杯狀細胞腦白質代謝障礙 |
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| 英文名稱 | Galactocerebrosidosis, globoid cell leukodystrophy |
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| 建立日期 | 2007/11/01 |
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| 更新日期 | 2007/11/01 |
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| 中文描述 | 致命的髓鞘遺傳疾病由於缺乏半乳糖腦苷脂Beta-半乳糖苷酶.可見於4-18月齡的去毛的多塞特綿羊,西高地白,凱恩梗獵犬,和其他種別的狗和貓.病狀開始於六個月齡大的年紀.藉由組織在壞死時診斷,顯示退化性病變在軸突和髓鞘.白血球可用來化驗酵素含量.病狀是越發嚴重的. |
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| 英文描述 | Fatal hereditary disease of myelin due to deficiency of galactocerebroside b-galactosidase. Seen in Polled Dorset sheep 4-18 months old, West Highland White, Cairn Terriers, and other breeds of dogs, and cats. Signs start at up to 6 months of age. Dx by histology at necropsy, which shows degenerative change in the axons and myelin sheaths. Leukocytes can be assayed for enzyme levels. Signs are progressive. |
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