| Literature DB >> 819651 |
Abstract
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.Entities:
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Year: 1976 PMID: 819651 PMCID: PMC1013376 DOI: 10.1136/jmg.13.2.149
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318