Abstract
A study was made of 58 heterozygotes and 32 homozygotes of MPS, which had been confirmed by urine analysis and of 20 healthy controls. The method used was a modification of the toluidine blue staining of peripheric blood smears. It was found that this procedure is suitable for the differentiation of MPS hetero- and homozygotes from healthy individuals but not sufficiently specific for differentiation between the individual types or between the hetero- and homozygotic character.
In 22 cases s study of the 35SO4 incorporation of peripheric white blood cell cultures showed that this method permits differentiation between the hetero-and homozygotes and, further, to a certain extent between the individual types too.
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Laszlo, A., Mannheim, A., Szabo, L. et al. METABOLIC PROBLEMS: SCREENING TESTS FOR THE DETECTION OF HOMOZYGOTES AND HETEROZYGOUS-GENE CARRIERS OF MUCOPOLYSACCHARI-DOSES / MPS/ BY SO4-ISOTOP INCORPORATION METHOD AND SIMPLE STAINING OF PERIPHERIAL BLOOD SMEAR. Pediatr Res 8, 136 (1974). https://doi.org/10.1203/00006450-197402000-00062
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DOI: https://doi.org/10.1203/00006450-197402000-00062