Bovine β-mannosidosis: Pathologic and Genetic Findings in Salers Calves
Bovine β-mannosidosis: Pathologic and Genetic Findings in Salers Calves
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牛 β-甘露糖苷贮积症：Salers 小牛的病理和遗传学发现
DOI：
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
F. Snyder
中科院分区：
文献类型：
--
作者：
L. Bryan;S. Schmutz;S. D. Hodges;F. Snyder
β-甘露糖苷沉积症是最近发现的新生Salers犊牛的溶酶体贮积病。对14头β-甘露糖苷酶缺乏症犊牛进行了检查。12头小牛来自常规实验室提交，2头小牛是育种试验的结果。患有β-甘露糖苷酶缺乏症的Salers犊牛妊娠期体重正常，为36 ± 6 kg，但出生时受到影响。头部中度圆拱，轻度上上级短颌。小牛横卧，头部震颤。双侧肾脏增大，脑内严重髓鞘形成不足，甲状腺肿大。神经、肾脏、甲状腺和淋巴组织的神经元、小管上皮细胞、滤泡细胞和巨噬细胞内分别存在重度细胞质空泡化。系谱分析和育种试验结果与常染色体隐性遗传病一致。对1,494头塞勒斯牛的初步生化调查表明，携带者频率为23%。
β-mannosidosis is a recently recognized lysosomal storage disease in newborn Salers calves. Fourteen calves with β-mannosidase deficiency were examined. Twelve calves were from routine laboratory submissions, and two calves were the result of a breeding trial. Salers calves with β-mannosidase deficiency were of normal gestational weight, 36 ± 6 kg, but were affected at birth. The head was moderately domed, and there was mild superior brachygnathism. The calves were recumbent and had a head tremor. There was bilateral renal enlargement, severe hypomyelination in the brain and variable thyroid gland enlargement. Severe cytoplasmic vacuolation was present within neurons, tubule epithelial cells, follicular cells and macrophages of the nervous, renal, thyroid and lymphoid tissues, respectively. Pedigree analysis and breeding trial results were consistent with an autosomal recessive disease. An initial biochemical survey of 1,494 Salers cattle indicated a carrier frequency of 23%.
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十二头 Salers 犊牛的 β-甘露糖苷中毒。
DOI：
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发表时间：
1991
期刊：
Journal of the American Veterinary Medical Association
影响因子：
--
作者：
Abbitt,B;Jones,MZ;Kasari,TR;Storts,RW;Templeton,JW;Holland,PS;Castenson,PE
通讯作者：
Castenson,PE
DOI：
--
发表时间：
1981
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Jones,MZ;Laine,RA
通讯作者：
Laine,RA
山羊肝 β-甘露糖苷酶：溶酶体和非溶酶体形式的分子特性、抑制和失活。
DOI：
10.1159/000469366
发表时间：
1985
期刊：
Enzyme
影响因子：
--
作者：
Cavanagh,KT;Fisher,RA;Legler,G;Herrchen,M;Jones,MZ;Julich,E;Sewell-Alger,RP;Sinnott,ML;Wilkinson,FE
通讯作者：
Wilkinson,FE
山羊β-甘露糖苷沉积症肾脏中积累的新型复合寡糖的结构特征。
DOI：
--
发表时间：
1985
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Matsuura,F;Jones,MZ
通讯作者：
Jones,MZ
DOI：
--
发表时间：
1981
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Jones,MZ;Dawson,G
通讯作者：
Dawson,G