title: Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
authors.affiliation: Programa de Pós-graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address: grazielaribas@yahoo.com.br.
authors.forename: G S
authors.initials: GS
authors.lastname: Ribas
authors.affiliation: Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: H M
authors.initials: HM
authors.lastname: Souza
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: J
authors.initials: J
authors.lastname: de Mari
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Deon
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: C
authors.initials: C
authors.lastname: Mescka
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: M L
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Kessler
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: F
authors.initials: F
authors.lastname: Trapp
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: K
authors.initials: K
authors.lastname: Michelin
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Burin
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Programa de Pós-graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
authors.forename: C R
authors.initials: CR
authors.lastname: Vargas
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Departamento de Genética, IB, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: rgiugliani@hcpa.edu.br.
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives / Q000627:therapeutic use; D001938:Brazil; D002352:Carrier Proteins / Q000235:genetics*; D002777:Cholestanols / Q000097:blood*; D005372:Filipin / Q000737:chemistry*; D006023:Glycoproteins / Q000235:genetics*; D006596:Hexosaminidases / Q000097:blood* / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics*; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D013194:Staining and Labeling; D033921:Vesicular Transport Proteins
chemical_list: D002352:Carrier Proteins; D002777:Cholestanols; D006023:Glycoproteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; C104585:NPC2 protein, human; D000077296:Niemann-Pick C1 Protein; D033921:Vesicular Transport Proteins; C000474:cholestane-3,5,6-triol; D017485:1-Deoxynojirimycin; D005372:Filipin; C059896:miglustat; D006596:Hexosaminidases; C086400:chitotriosidase
keywords: Chitotriosidase; Cholestane-3β,5α,6β-triol; Lysosomal diseases; Niemann–Pick type C; Oxysterols