Enzymatic Diagnosis of Hurler Syndrome
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概要
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The activity of α-L-iduronidase was determined in leucocytes, and cultured skin fibroblasts from the homozygotes and heterozygotes of the Hurler syndrome or the Hunter syndrome.<BR>It was found that the determination of α-L-iduronidase was a useful method for the differen-tial diagnosis of the Hurler syndrome from the Hunter syndrome and for the diagnosis of hete-rozygotes of the Hurler syndrome which had been difficult so far. Normal cultured amniotic fluid cells revealed a lower but significant activity of α-L-iduronidase. This suggests a rapid and useful procedure of prenatal diagnosis of the Hurler syndrome.
- 一般社団法人 日本小児神経学会の論文
一般社団法人 日本小児神経学会 | 論文
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