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Results: 1 to 20 of 102

1.

Screening of high-risk Gaucher disease patients in Brazil using miniaturized dried blood spots and leukocyte techniques.

Goldim MP, Garcia Cda S, de Castilhos CD, Daitx VV, Mezzalira J, Breier AC, Cé J, Mello A, Andrade CV, Sartori N, Coelho JC.

Gene. 2012 Oct 25;508(2):197-8. doi: 10.1016/j.gene.2012.07.011. Epub 2012 Aug 3.

PMID:
22884741
[PubMed - indexed for MEDLINE]
2.

Screening of high-risk Gaucher disease patients using dried blood spots techniques.

Vairo F, Netto C, Tirelli KM, Siebert M, Burin M, Saraiva-Pereira ML, Balreira A, Sá Miranda MC, Lukacs Z, Schwartz IV.

Gene. 2013 Jul 1;523(1):114-5. doi: 10.1016/j.gene.2013.03.106. Epub 2013 Apr 6. No abstract available.

PMID:
23566842
[PubMed - indexed for MEDLINE]
3.

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

Chamoles NA, Blanco M, Gaggioli D, Casentini C.

Clin Chim Acta. 2002 Mar;317(1-2):191-7.

PMID:
11814475
[PubMed - indexed for MEDLINE]
4.

Chitotriosidase determination in plasma and in dried blood spots: a comparison using two different substrates in a microplate assay.

Rodrigues MD, de Oliveira AC, Müller KB, Martins AM, D'Almeida V.

Clin Chim Acta. 2009 Aug;406(1-2):86-8. doi: 10.1016/j.cca.2009.05.022. Epub 2009 Jun 6.

PMID:
19501579
[PubMed - indexed for MEDLINE]
5.

Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional study.

Chaves RG, Coelho JC, Michelin-Tirelli K, Maurício TF, de Freitas Maia Chaves E, de Almeida PC, Maurício CR, Cavalcanti GB Jr.

JIMD Rep. 2011;1:73-8. doi: 10.1007/8904_2011_19. Epub 2011 Jun 22.

PMID:
23430831
[PubMed]
Free PMC Article
6.

Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper.

Herrera D, Monaga M, Campos D, Pampín Y, González EC, Lavaut K.

J Neonatal Perinatal Med. 2013;6(1):61-7. doi: 10.3233/NPM-1364312.

PMID:
24246460
[PubMed - indexed for MEDLINE]
7.

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience.

Müller KB, Rodrigues MD, Pereira VG, Martins AM, D'Almeida V.

Diagn Pathol. 2010 Sep 29;5:65. doi: 10.1186/1746-1596-5-65.

PMID:
20920262
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

[The biochemical diagnosis of Gaucher disease].

Yargui L, Mokhtari S, Arab M, Berhoune A.

Arch Pediatr. 2005 Aug;12(8):1301-9. Review. French.

PMID:
15878824
[PubMed - indexed for MEDLINE]
9.

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases.

Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, Coelho JC.

Clin Biochem. 2004 Oct;37(10):893-7.

PMID:
15369720
[PubMed - indexed for MEDLINE]
10.

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.

Legnini E, Orsini JJ, Hung C, Martin M, Showers A, Scarpa M, Zhang XK, Keutzer J, Mühl A, Bodamer OA.

Clin Chim Acta. 2011 Jan 30;412(3-4):343-6. doi: 10.1016/j.cca.2010.11.006. Epub 2010 Nov 9. Erratum in: Clin Chim Acta. 2011 Nov 20;412(23-24):2358. Legini, Elisa [corrected to Legnini, Elisa].

PMID:
21070755
[PubMed - indexed for MEDLINE]
11.

Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia.

Pacheco N, Uribe A.

Gene. 2013 May 25;521(1):129-35. doi: 10.1016/j.gene.2013.03.044. Epub 2013 Mar 21.

PMID:
23523857
[PubMed - indexed for MEDLINE]
12.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.

Clin Chem. 2004 Oct;50(10):1785-96. Epub 2004 Aug 3.

PMID:
15292070
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma.

Daitx VV, Mezzalira J, Goldim MP, Coelho JC.

Clin Biochem. 2012 Oct;45(15):1233-8. doi: 10.1016/j.clinbiochem.2012.04.030. Epub 2012 May 5.

PMID:
22569598
[PubMed - indexed for MEDLINE]
14.

Effect of sample collection, temperature and time of storage on β-galactosidase and total hexosaminidase activities in dried blood collected on filter paper.

de Castilhos CD, Mezzalira J, Goldim MP, Werlang FG, Coelho JC.

Clin Chem Lab Med. 2011 Aug;49(8):1299-302. doi: 10.1515/CCLM.2011.193. Epub 2011 May 17.

PMID:
21574888
[PubMed - indexed for MEDLINE]
15.

Diagnosis of lysosomal storage disorders: Gaucher disease.

Johnson BA, Dajnoki A, Bodamer O.

Curr Protoc Hum Genet. 2014 Jul 14;82:17.15.1-6. doi: 10.1002/0471142905.hg1715s82.

PMID:
25042717
[PubMed - in process]
16.

An improved high-throughput dried blood spot screening method for Gaucher disease.

Olivova P, Cullen E, Titlow M, Kallwass H, Barranger J, Zhang K, Keutzer J.

Clin Chim Acta. 2008 Dec;398(1-2):163-4. doi: 10.1016/j.cca.2008.08.024. Epub 2008 Sep 9. No abstract available.

PMID:
18812173
[PubMed - indexed for MEDLINE]
17.

Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients.

Stroppiano M, Calevo MG, Corsolini F, Cassanello M, Cassinerio E, Lanza F, Stroppiana G, Cappellini MD, Filocamo M.

Clin Biochem. 2014 Sep;47(13-14):1293-6. doi: 10.1016/j.clinbiochem.2014.06.005. Epub 2014 Jun 16.

PMID:
24945105
[PubMed - in process]
18.

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.

Michelin K, Wajner A, de Souza FT, de Mello AS, Burin MG, Pereira ML, Pires RF, Giugliani R, Coelho JC.

Am J Med Genet A. 2005 Jul 1;136(1):58-62.

PMID:
15937950
[PubMed - indexed for MEDLINE]
19.

Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease.

Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, Coelho JC.

Clin Biochem. 2007 Mar;40(5-6):365-9. Epub 2007 Jan 8.

PMID:
17291472
[PubMed - indexed for MEDLINE]
20.

Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.

Lukacs Z, Hartung R, Beck M, Keil A, Mengel E.

J Inherit Metab Dis. 2007 Aug;30(4):614. Epub 2007 Aug 10.

PMID:
17694354
[PubMed - indexed for MEDLINE]

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