An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency

M. M. McGovern; D. T. Vine; M. E. Haskins; R. J. Desnick

doi:10.1159/000459176

An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency

M. M. McGovern, D. T. Vine, M. E. Haskins, R. J. Desnick

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12 Scopus citations

Abstract

An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. Determination of arylsulfatase-B specific activities did not permit accurate heterozygote identification, whereas the arylsulfatase-A to arylsulfatase-B activity ratio discriminated all 16 obligate heterzygotes for the feline and human disorders.

Original language	English
Pages (from-to)	206-210
Number of pages	5
Journal	Enzyme
Volume	26
Issue number	4
DOIs	https://doi.org/10.1159/000459176
State	Published - 1981

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abstract = "An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. Determination of arylsulfatase-B specific activities did not permit accurate heterozygote identification, whereas the arylsulfatase-A to arylsulfatase-B activity ratio discriminated all 16 obligate heterzygotes for the feline and human disorders.",

author = "McGovern, {M. M.} and Vine, {D. T.} and Haskins, {M. E.} and Desnick, {R. J.}",

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AU - Desnick, R. J.

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AB - An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. Arylsulfatase-A and -B activities were assayed in leukocyte extracts following separation of the enzymes by batch chromatography on DEAE cellulose. Determination of arylsulfatase-B specific activities did not permit accurate heterozygote identification, whereas the arylsulfatase-A to arylsulfatase-B activity ratio discriminated all 16 obligate heterzygotes for the feline and human disorders.

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An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency

Abstract

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