NO TO HATTATSU
Online ISSN : 1884-7668
Print ISSN : 0029-0831
ISSN-L : 0029-0831
Enzymatic Diagnosis of Hurler Syndrome
Kiyoshi OMURAShinobu HIGAMIKoji NISHIZAWAGen ISSHIKIKeiya TADA
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Keywords: α-L-iduronidase
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1976 Volume 8 Issue 5 Pages 358-361

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Abstract
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.
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.
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© Japanese Society of Child Neurology
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