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Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis.

Abstract：

:In Triton X-100 solubilized leukocytes of 17 patients and 8 obligate carriers of X-linked recessive ichthyosis (XLI) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to beta-galactosidase activity. The ASC/beta-gal ratio of XLI patients is markedly decreased (range 0.07-0.48) in comparison to the corresponding control group of males (range 1.3-2.7). The enzyme ratios of 8 obligate carriers of XLI are decreased (range 0.90-1.9) in comparison to the normal females (2.13-5.52). These results indicate that the determination of the enzyme ratio of ASC/beta-gal in Triton X-100 solubilized leukocytes is a sensitive test for biochemical identification of patients and probably of carriers of XLI.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Herrmann FH,Grimm U,Hadlich J

doi

10.1007/BF01799494

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

89-94

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

10

pub_type

杂志文章

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