Chitotriosidase deficiency in Brazil: Evaluation of enzyme activity and genotypes

被引:4
作者
Rodrigues, Mayra D. B.
Muller, Karen B.
Pereira, Vanessa G.
Martins, Ana M.
D'Almeida, Vania [1 ,2 ]
机构
[1] Univ Fed Sao Paulo, Dept Pediat, LEIM, Sao Paulo, Brazil
[2] Univ Fed Sao Paulo, Dept Biosci, Sao Paulo, Brazil
关键词
MARKED ELEVATION; GAUCHER-DISEASE; POLYMORPHISMS; DUPLICATION; PLASMA;
D O I
10.1016/j.bcmd.2010.02.002
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:305 / 306
页数:2
相关论文
共 8 条
[1]   Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention [J].
Boot, RG ;
Verhoek, M ;
de Fost, M ;
Hollak, CEM ;
Maas, M ;
Bleijlevens, B ;
van Breemen, MJ ;
van Meurs, M ;
Boven, LA ;
Laman, JD ;
Moran, MT ;
Cox, TM ;
Aerts, JMFG .
BLOOD, 2004, 103 (01) :33-39
[2]   Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis [J].
Hise, AG ;
Hazlett, FE ;
Bockarie, MJ ;
Zimmerman, PA ;
Tisch, DJ ;
Kazura, JW .
GENES AND IMMUNITY, 2003, 4 (07) :524-527
[3]   MARKED ELEVATION OF PLASMA CHITOTRIOSIDASE ACTIVITY - A NOVEL HALLMARK OF GAUCHER DISEASE [J].
HOLLAK, CEM ;
VANWEELY, S ;
VANOERS, MHJ ;
AERTS, JMFG .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) :1288-1292
[4]   Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity [J].
Lee, Pauline ;
Waalen, Jill ;
Crain, Karen ;
Smargon, Aaron ;
Beutler, Ernest .
BLOOD CELLS MOLECULES AND DISEASES, 2007, 39 (03) :353-360
[5]   A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area:: role of parasitic diseases and environmental conditions [J].
Malaguarnera, L ;
Simporè, J ;
Prodi, DA ;
Angius, A ;
Sassu, A ;
Persico, I ;
Barone, R ;
Musumeci, S .
GENES AND IMMUNITY, 2003, 4 (08) :570-574
[6]   Chitotriosidase deficiency in survivors of Candida sepsis [J].
Masoud, M ;
Rudensky, B ;
Elstein, D ;
Zimran, A .
BLOOD CELLS MOLECULES AND DISEASES, 2002, 29 (01) :116-118
[7]   Chitotriosidase determination in plasma and in dried blood spots: A comparison using two different substrates in a microplate assay [J].
Rodrigues, Mayra D. B. ;
de Oliveira, Allan C. ;
Mueller, Karen B. ;
Martins, Ana Maria ;
D'Almeida, Vania .
CLINICA CHIMICA ACTA, 2009, 406 (1-2) :86-88
[8]   Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR [J].
Rodrigues, MR ;
Miranda, MCS ;
Amaralab, O .
BLOOD CELLS MOLECULES AND DISEASES, 2004, 33 (03) :362-364