title: Screening of high-risk Gaucher disease patients in Brazil using miniaturized dried blood spots and leukocyte techniques.
abstract: This study investigates the miniaturization of the screening technique using dried blood spots on filter paper (DBS) to measure GBA and CT activities, and GBA and β-galactosidase activities in leukocytes. 274 DBS from individuals with suspected GD were screened for 1.5 years. Of these, we confirmed the diagnosis in 13.5%. The miniaturization of the DBS and leukocyte techniques afforded to reduce costs and sample size appropriate for a reliable diagnosis.
authors.affiliation: Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Mariana Pereira de Souza
authors.initials: MP
authors.lastname: Goldim
authors.forename: Cristina da Silva
authors.initials: Cda S
authors.lastname: Garcia
authors.forename: Cristina Dickie
authors.initials: CD
authors.lastname: de Castilhos
authors.forename: Vanessa Vitcoski
authors.initials: VV
authors.lastname: Daitx
authors.forename: Jamila
authors.initials: J
authors.lastname: Mezzalira
authors.forename: Ana Carolina
authors.initials: AC
authors.lastname: Breier
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Cé
authors.forename: Alexandre
authors.initials: A
authors.lastname: Mello
authors.forename: Carla Vieira
authors.initials: CV
authors.lastname: Andrade
authors.forename: Nicole
authors.initials: N
authors.lastname: Sartori
authors.forename: Janice Carneiro
authors.initials: JC
authors.lastname: Coelho
mesh_terms: D001681:Biological Assay; D001800:Blood Specimen Collection; D001938:Brazil; D016022:Case-Control Studies; D005776:Gaucher Disease / Q000097:blood* / Q000175:diagnosis*; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008403:Mass Screening; D001616:beta-Galactosidase / Q000097:blood*
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase; D001616:beta-Galactosidase