4 documents found, page 1 of 1
A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled...
Ludwig,Nataniel F; Sperb-Ludwig,Fernanda; Randon,Dévora N; Bernardi,Pricila; Giuliani,Liane R; Moreno,Carolina A; Cavalcanti,Denise P; Silva,Luiz CS daAbstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mucolipidosis II and III alpha/beta, which are severe and characterized by an overflow of lysosomal hydrolases into the extracellular environment, and their absence in l...
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 ...
Poloni,Soraia; Hoss,Giovana W.; Sperb-Ludwig,Fernanda; Borsatto,Taciane; Doriqui,Maria Juliana R.; Leão,Emília K.E.A; Boa-Sorte,Ney; Lourenço,Charles M.Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the...
Type 1 diabetes in a patient with Ellis-van Creveld syndrome
Graziadio,Carla; Bernardi,Pricila; Rosa,Rafael Fabiano Machado; Zen,Paulo Ricardo Gazzola; Paskulin,Giorgio AdrianoCONTEXT: Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT: The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at 16 years of ag...
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additio...
Bernardi,Pricila; Graziadio,Carla; Rosa,Rafael Fabiano Machado; Pfeil,Juliana Nunes; Zen,Paulo Ricardo Gazzola; Paskulin,Giorgio AdrianoCONTEXT: The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL is an acronym for a nonrandom association of congenital anomalies for which the etiology is still poorly understood. CASE REPORT: The patient was a seven-month-old white girl whose mother had used misoprostol in the second month of pregnancy to in...