| 中文名稱 | 山羊的乙位-右旋-甘露醣酐病（甘露醣過多症），甘露醣 |
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| 英文名稱 | Beta-d-mannosidosis, mannosidase deficiency, in goats |
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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 | 乙位-右旋-甘露醣酐缺乏在山羊小孩是罕見的病,由於缺乏乙位-右旋-甘露糖苷導致甘露糖苷在神經組織的集結並且有臨床症狀,伴隨神經組織的壞死空泡化.藉由組織學和證實乙位-右旋-甘露醣酐在血中和組織缺乏來診斷.臨床病狀是在出生時出現.除了神經症狀也許會有臉部異常,包括縱裂的眼瞼裂隙,鼻樑扁平,鼻口部拉長,耳朵摺疊,和圓頂形的骨頭.被報導在努比亞,遺傳了體染色體隱性.異形合子有較少的甘露醣酐值 |
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| 英文描述 | Beta-D-Mannosidase Deficiency is a rare disease of goat kids due to a lack of beta-D-mannosidase causing a buildup of mannoside in nervous tissues and clinical signs, with vacuolation of nervous tissue at necropsy. Dx by histo and demonstration of beta-D- mannosidase deficiency in blood and tissues. Clinical signs are present at birth. In addition to nervous signs there may be facial abnormalities including slit-like palpebral fissures, depressed nasal bridge, elongated muzzle, folded ears, and dome-shaped skull. Reported in the Nubian, inherited as an autosomal recessive. Heterozygotes have low mannosidase values. |
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