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Arylsulfatase A in pseudodeficiency

Human Genetics, 1984
Arylsulfatase A (ASA) is found to be deficient in healthy individuals (pseudo arylsulfatase A deficiency) who usually show in vitro ASA levels in the range of metachromatic leukodystrophy patients. The in vitro properties of ASA in pseudodeficiency were studied in cultured fibroblasts.
Barbara Herz, Gideon Bach
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Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency

Molecular and Cellular Biochemistry, 1990
Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this phenotype is associated with a structural gene mutation
Mohammed Ameen   +5 more
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Arylsulfatase A pseudodeficiency in Chinese

Human Genetics, 1996
Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone.
Wuh-Liang Hwu   +5 more
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A Km mutant of arylsulfatase A

Clinica Chimica Acta, 1982
Abstract The apparent Michealis constant for p-nitrocatechol sulfate of arylsulfatase A of fibroblasts of a metachromatic leukodystrophy patient has been determined and compared to that of normal controls. Control cells gave an apparent Km of 0.7 mmol/l, while the apparent Km of patient's cells was determined to be 19.8 mmol/l.
F. A. Hommes   +3 more
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