Giugliani R - Search Results

1

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

Kubaski F, Burlina A, Pereira D, Silva C, Herbst ZM, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Poletto E, Bernardes TM, Carvalho GS, Sorte NB, Ferreira FN, Perin N, Clivati MR, de Santana MTS, Lobos SFG, Leão EKEA, Coutinho MP, Pinos PV, Santos MLSF, Penatti DA, Lourenço CM, Polo G, Giugliani R. Kubaski F, et al. Among authors: giugliani r. Orphanet J Rare Dis. 2022 Nov 8;17(1):407. doi: 10.1186/s13023-022-02560-x. Orphanet J Rare Dis. 2022. PMID: 36348386 Free PMC article.

2

Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.

Castilhos CD, Mello AS, Burin MG, Guidobono RR, Gotardo S, Giugliani R, Coelho JC. Castilhos CD, et al. Among authors: giugliani r. Am J Med Genet A. 2003 Jun 15;119A(3):348-51. doi: 10.1002/ajmg.a.20203. Am J Med Genet A. 2003. PMID: 12784303

3

Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.

Petry MF, Dieter T, Burin M, Giugliani R, Leistner S. Petry MF, et al. Among authors: giugliani r. Genet Test. 2003 Winter;7(4):347-9. doi: 10.1089/109065703322783743. Genet Test. 2003. PMID: 15000815

4

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.

Burin MG, Scholz AP, Gus R, Sanseverino MT, Fritsh A, Magalhães JA, Timm F, Barrios P, Chesky M, Coelho JC, Giugliani R. Burin MG, et al. Among authors: giugliani r. Prenat Diagn. 2004 Aug;24(8):653-7. doi: 10.1002/pd.967. Prenat Diagn. 2004. PMID: 15305357

5

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. Wajner A, et al. Among authors: giugliani r. Clin Biochem. 2004 Oct;37(10):893-7. doi: 10.1016/j.clinbiochem.2004.06.008. Clin Biochem. 2004. PMID: 15369720

6

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. Michelin K, et al. Among authors: giugliani r. Am J Med Genet A. 2005 Jul 1;136(1):58-62. doi: 10.1002/ajmg.a.30787. Am J Med Genet A. 2005. PMID: 15937950

7

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.

Civallero G, Michelin K, de Mari J, Viapiana M, Burin M, Coelho JC, Giugliani R. Civallero G, et al. Among authors: giugliani r. Clin Chim Acta. 2006 Oct;372(1-2):98-102. doi: 10.1016/j.cca.2006.03.029. Epub 2006 May 18. Clin Chim Acta. 2006. PMID: 16712827

8

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.

Jardim LB, Aesse F, Vedolin LM, Pitta-Pinheiro C, Marconato J, Burin MG, Cecchin C, Netto CB, Matte US, Pereira F, Kalakun L, Giugliani R. Jardim LB, et al. Among authors: giugliani r. Arq Neuropsiquiatr. 2006 Sep;64(3B):711-7. doi: 10.1590/s0004-282x2006000500002. Arq Neuropsiquiatr. 2006. PMID: 17057872 Free article.

9

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. Wajner A, et al. Among authors: giugliani r. Clin Biochem. 2007 Mar;40(5-6):365-9. doi: 10.1016/j.clinbiochem.2006.12.003. Epub 2007 Jan 8. Clin Biochem. 2007. PMID: 17291472

10

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength.

Cardoso-Santos A, Azevedo AC, Fagondes S, Burin MG, Giugliani R, Schwartz IV. Cardoso-Santos A, et al. Among authors: giugliani r. J Pediatr (Rio J). 2008 Mar-Apr;84(2):130-5. doi: 10.2223/JPED.1743. Epub 2008 Mar 18. J Pediatr (Rio J). 2008. PMID: 18338089

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

585 results

Search Page

Filters