GM1型全身性神经节苷脂贮积症中的角膜混浊
Corneal clouding in GM1-generalized gangliosidosis.
作者信息
Babarik A, Benson P F, Fensom A H
出版信息
Br J Ophthalmol. 1976 Aug;60(8):565-7. doi: 10.1136/bjo.60.8.565.
Abstract
Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.
摘要
角膜混浊被列入在GM1-全身性神经节苷脂贮积症和Hurler综合征（以及其他一些黏多糖贮积症）中均会出现的临床和化学异常清单中。我们患者的父母是也门近亲，其白细胞和成纤维细胞培养物中存在部分β-半乳糖苷酶缺乏。
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Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
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A newly recognized forme fruste of Hurler's disease (gargoylism).一种新发现的胡勒氏病（黏多糖贮积症Ⅰ型）的顿挫型。
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GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?全身性神经节苷脂沉积症：另一种神经节苷脂代谢的先天性缺陷？
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Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease.青少年GM2神经节苷脂沉积症。泰-萨克斯病的临床变异型还是一种新疾病。
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