A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.
A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.
复制标题
一种新型粘脂沉积症，伴有β-半乳糖苷酶缺乏和糖肽尿。
DOI：
10.1620/tjem.107.303
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发表时间：
1972
影响因子：
2.2
通讯作者：
T. Nakao
中科院分区：
文献类型：
--
作者：
T. Orii;R. Minami;K. Sukegawa;S. Sato;S. Tsugawa;K. Horino;Ryoichi Miura;T. Nakao
本文报告一例新型粘脂沉积症的临床、生化和电镜研究。患者为一名14岁日本男孩，面部粗糙、多发性骨发育不全、神经功能恶化、角膜混浊、黄斑樱桃红斑、β-半乳糖苷酶缺乏、糖肽尿症以及肝实质、肾小球、肾骨髓和外周淋巴细胞空泡化细胞。
Clinical, biochemical and electron microscopic studies on a patient of a new type of mucolipidosis are described. The patient is a 14-year-old Japanese boy who has coarse facies, dysostosis multiplex, neurologic deterioration, corneal clouding, macular cherry red spot, β-galactosidase deficiency, glycopeptiduria, and vacuolated cells in hepatic parenchyma, renal glomeruli, renal bone marrow and peripheral lymphocytes.