Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme

作者：Mae Wan Ho, John S. O’Brien · 发表于：Science · 年份：1969 · DOI：10.1126/science.165.3893.611 · 被引用次数：106 · 研究领域：Biomedical Research and Pathophysiology、Neonatal Health and Biochemistry、Metabolism and Genetic Disorders

A marked deficiency of a specific thermolabile beta-galactosidase isoenzyme (pH optimum 3 to 5) was found in liver and kidney tissues of five patients with the Hurler's syndrome (types 1 to 3).