Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.

AUTOR(ES)

Kelly, T E

RESUMO

Assay of alpha-L-iduronidase in peripheral leucocytes is a rapid and simple diagnostic aid in mucopolysaccharidosis I. The mean value for heterozygotes is one-half the value of normal controls, but overlap between the two groups occurs. Use of this assay may be helpful in genetic counselling of selected couples.

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