Browsing by Author "Giugliani, Roberto"
Now showing items 1-16 of 16
-
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Horovitz, Dafne Dain Gandelman et al. | Date Issued: 2016A terapia de reposição enzimática (TRE) com laronidase (α-L-iduronidase humana recombinante, Aldurazyme®) é indicada para sinais e sintomas não neurológicos da mucopolissacaridose tipo I (MPS I). O regime de dose de ... -
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, x-inactivation analysis and imaging evaluations
Pinto, Louise Lapagesse de Camargo et al. | Date Issued: 2010 -
Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer
Palmero, Edenir Inêz et al. | Date Issued: 2020 -
A clinical study of 77 patients with mucopolysaccharidosis type II
Schwartz, Ida V. D. et al. | Date Issued: 2007 -
A Community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Motta, Fabiana Maia Moura Costa et al. | Date Issued: 2014 -
Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
Santos, Cláudia Maria Carvalho dos et al. | Date Issued: 1998Apresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado entre a população brasileira, uma grave e rara doença de depósito lisossomal, com apenas 12 casos claramente descritos mundialmente. ... -
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Dornelles, Alícia Dorneles et al. | Date Issued: 2014 -
Initial report from the hunter outcome survey
Wraith, J. Edmond et al. | Date Issued: 2008 -
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis
Rojas, Maria Verónica Muñoz et al. | Date Issued: 2010 -
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment
Giugliani, Roberto et al. | Date Issued: 2010 -
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI
Solanki, Guirish A. et al. | Date Issued: 2012 -
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI
Baldo, Guilherme et al. | Date Issued: 2011 -
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome
Ewald, Ingrid P. et al. | Date Issued: 2011 -
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
Brusius-Facchin, Ana Carolina et al. | Date Issued: 2012 -
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
Giugliani, Roberto et al. | Date Issued: 2010As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos ... -
The Brazilian consensus on the management of pompe disease
Llerena Junior, Juan Clinton et al. | Date Issued: 2009