Saraiva-Pereira ML - Search Results

1

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.

Artigalás O, Paskulin G, Riegel M, Burin M, Saraiva-Pereira ML, Maluf S, Kiss A, Schwartz IV. Artigalás O, et al. Genet Mol Biol. 2012 Apr;35(2):424-7. doi: 10.1590/S1415-47572012000300007. Epub 2012 Jun 23. Genet Mol Biol. 2012. PMID: 22888290 Free PMC article.

2

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.

Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, Sequeiros J, Silveira I. Alonso I, et al. Neurology. 2006 May 23;66(10):1602-4. doi: 10.1212/01.wnl.0000216266.30177.bb. Neurology. 2006. PMID: 16717236 No abstract available.

3

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells.

Lagranha VL, Baldo G, de Carvalho TG, Burin M, Saraiva-Pereira ML, Matte U, Giugliani R. Lagranha VL, et al. Metab Brain Dis. 2008 Dec;23(4):469-84. doi: 10.1007/s11011-008-9107-4. Epub 2008 Sep 17. Metab Brain Dis. 2008. PMID: 18797988

4

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.

Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894

5

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.

Giugliani L, Sitta A, Vargas CR, Santana-da-Silva LC, Nalin T, Saraiva-Pereira ML, Giugliani R, Schwartz IV. Giugliani L, et al. J Pediatr (Rio J). 2011 May-Jun 8;87(3):245-51. doi: 10.2223/JPED.2090. J Pediatr (Rio J). 2011. PMID: 21660367 English, Portuguese.

6

Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR.

de Souza Godinho FM, Bock H, Gheno TC, Saraiva-Pereira ML. de Souza Godinho FM, et al. Genet Mol Biol. 2012 Dec;35(4 (suppl)):955-9. doi: 10.1590/s1415-47572012000600010. Epub 2012 Dec 18. Genet Mol Biol. 2012. PMID: 23412967 Free PMC article.

7

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. Vairo F, et al. Gene. 2013 Jul 1;523(1):114-5. doi: 10.1016/j.gene.2013.03.106. Epub 2013 Apr 6. Gene. 2013. PMID: 23566842 No abstract available.

8

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

Virgens MY, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira ML. Virgens MY, et al. Gene. 2015 Aug 15;568(1):69-75. doi: 10.1016/j.gene.2015.05.016. Epub 2015 May 9. Gene. 2015. PMID: 25965562

9

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.

Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R. Ribas GS, et al. Clin Chim Acta. 2016 Aug 1;459:57-62. doi: 10.1016/j.cca.2016.05.015. Epub 2016 May 24. Clin Chim Acta. 2016. PMID: 27234403 Free article. No abstract available.

10

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

Saute JA, Souza CF, Poswar FO, Donis KC, Campos LG, Deyl AV, Burin MG, Vargas CR, Matte UD, Giugliani R, Saraiva-Pereira ML, Vedolin LM, Gregianin LJ, Jardim LB. Saute JA, et al. Arq Neuropsiquiatr. 2016 Dec;74(12):953-966. doi: 10.1590/0004-282X20160155. Arq Neuropsiquiatr. 2016. PMID: 27991992 Free article.

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