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Article

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Aug 1999

Pedron C G, Gaspar P A, Giugliani R, Pereira M L

Abstract excerpt

Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the...

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Identifiers

PMID: 10454754
DOI: 10.1590/s0100-879x1999000800002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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