Giugliani R - Search Results

1

Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study.

Viana MB, Leite VH, Giugliani R, Fensom A. Viana MB, et al. Among authors: giugliani r. Sangre (Barc). 1992 Feb;37(1):59-67. Sangre (Barc). 1992. PMID: 1585241 Review.

2

Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.

Viana MB, Giugliani R, Leite VH, Barth ML, Lekhwani C, Slade CM, Fensom A. Viana MB, et al. Among authors: giugliani r. J Med Genet. 1990 Aug;27(8):499-504. doi: 10.1136/jmg.27.8.499. J Med Genet. 1990. PMID: 2120445 Free PMC article.

3

Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?

Jardim LB, Giugliani R, Fensom AH. Jardim LB, et al. Among authors: giugliani r. Neuropediatrics. 1992 Feb;23(1):30-1. doi: 10.1055/s-2008-1071308. Neuropediatrics. 1992. PMID: 1565214

4

Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts.

Scalco FB, Giugliani R, Tobo P, Coelho JC. Scalco FB, et al. Among authors: giugliani r. Braz J Med Biol Res. 1999 Jan;32(1):23-8. doi: 10.1590/s0100-879x1999000100003. Braz J Med Biol Res. 1999. PMID: 10347764

5

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

Giugliani R, Jackson M, Skinner SJ, Vimal CM, Fensom AH, Fahmy N, Sjövall A, Benson PF. Giugliani R, et al. Clin Genet. 1987 Nov;32(5):313-25. doi: 10.1111/j.1399-0004.1987.tb03296.x. Clin Genet. 1987. PMID: 3121219

6

Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients.

Barth ML, Giugliani R, Goldenfum SL, Munarski R, Folberg A, Lekhwani C, Slade C, Fensom AH. Barth ML, et al. Among authors: giugliani r. Am J Med Genet. 1990 Dec;37(4):534-8. doi: 10.1002/ajmg.1320370422. Am J Med Genet. 1990. PMID: 2260603

7

Infantile sialic acid storage disease: report of the first case in South America.

Utagawa CY, Sugayama SM, Ribeiro EM, Bertola DR, Baba ER, Burin MG, Lewis E, Coelho HC, Fensom AH, Marques-Dias MJ, Gonzales CH, Kim CA, Giugliani R. Utagawa CY, et al. Among authors: giugliani r. Clin Genet. 1999 May;55(5):386-7. Clin Genet. 1999. PMID: 10422814 No abstract available.

8

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.

Albano LM, Sugayama SS, Bertola DR, Andrade CE, Utagawa CY, Puppi F, Nader HB, Toma L, Coelho J, Leistner S, Burin M, Giugliani R, Chong AK. Albano LM, et al. Among authors: giugliani r. Rev Hosp Clin Fac Med Sao Paulo. 2000 Nov-Dec;55(6):213-8. doi: 10.1590/s0041-87812000000600004. Rev Hosp Clin Fac Med Sao Paulo. 2000. PMID: 11313661

9

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.

Patterson MC, Garver WS, Giugliani R, Imrie J, Jahnova H, Meaney FJ, Nadjar Y, Vanier MT, Moneuse P, Morand O, Rosenberg D, Schwierin B, Héron B. Patterson MC, et al. Among authors: giugliani r. J Inherit Metab Dis. 2020 Sep;43(5):1060-1069. doi: 10.1002/jimd.12245. Epub 2020 May 8. J Inherit Metab Dis. 2020. PMID: 32324281 Free PMC article.

10

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.

Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Azevedo AC, et al. Among authors: giugliani c, giugliani r. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x. Clin Genet. 2004. PMID: 15324318

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