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Lysosomal Enzyme Activities Among Chinese: Leukocyte α-Galactosidase and β-Galactosidase

 

作者: Y.-K. Xu,   W.G. Ng,  

 

期刊: Human Heredity  (Karger Available online 1988)
卷期: Volume 38, issue 2  

页码: 76-82

 

ISSN:0001-5652

 

年代: 1988

 

DOI:10.1159/000153762

 

出版商: S. Karger AG

 

关键词: Chinese;α-Galactosidase;β-Galactosidase;Leukocytes;Fabry’s disease;GM1gangliosidosis;Carrier detection

 

数据来源: Karger

 

摘要:

α-Galactosidase and β-galactosidase activities have been determined in leukocyte preparations from 100 randomly selected Chinese adults. For α-galactosidase, two groups with low activities were identified: group I consisted of 3 females having activities below 40% of normal, and group II consisted of 5 males and 1 female with activities about 60% of normal. Family studies suggested that these low α-galactosidase activities are genetically determined. Only 1 individual was found to have about 50% of normal β-galactosidase activity; presumably he is a carrier for β-galactosidase deficiency (GM1 gangliosid

 

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