4 documents found, page 1 of 1
Characterization of the 3'UTR of the BTD gene and identification of regulatory ...
Silva,Gerda Cristal Villalba; Borsatto,Taciane; Schwartz,Ida Vanessa Doederlein; Sperb-Ludwig,FernandaAbstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region may present relevance in understanding the genotype-phenotype association. The aims of the study were to...
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...
Prevalence of the most common pathogenic variants in three genes for inborn err...
Randon,Dévora N.; Sperb-Ludwig,Fernanda; Vianna,Fernanda S. L.; Becker,Ana P. P.; Vargas,Carmen R.; Sitta,Angela; Sant’Ana,Alexia N.; Schwartz,Ida V. D.Abstract Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CTLNI, ASS1 gene), c.1528G>C (LCHADD, HADHA gene), c.655A>T and c.1106G>A (mut0 MMA, MUT gene). Considering the absenc...
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...