Wappner R S, Brandt I K
Pediatr Res. 1976 Jun;10(6):629-32. doi: 10.1203/00006450-197606000-00013.
Alpha-L-Iduronidase activity and beta-galactosidase activity were determined in mixed leukocyte preparations in 10 families in which the Hurler syndrome had occurred. Affected patients, heterozygotes, and normal subjects were clearly distinguished by alpha-L-iduronidase activity alone. Patients had 0-3%, obligate heterozygotes 19-60%, and normal subjects 83-121% of the mean normal activity. There was no overlap between heterozygotes and normal subjects. Although the mean alpha-L-iduronidase to beta-galactosidase ratio was significantly lowered in heterozygotes when compared with that of normal subjects, appreciable overlap was noted between the two groups.
在10个出现了Hurler综合征的家族的混合白细胞制剂中测定了α-L-艾杜糖醛酸酶活性和β-半乳糖苷酶活性。仅通过α-L-艾杜糖醛酸酶活性就能清楚地区分受影响的患者、杂合子和正常受试者。患者的活性为正常平均活性的0-3%，必然杂合子为19-60%，正常受试者为83-121%。杂合子和正常受试者之间没有重叠。尽管与正常受试者相比，杂合子中α-L-艾杜糖醛酸酶与β-半乳糖苷酶的平均比率显著降低，但两组之间仍存在明显重叠。
