2 documents found, page 1 of 1
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylat...
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; co...
Granulações de Alder-Reilly em Pacientes com Mucopolissacaridose VI
Vieira, Taiane Alves; Schwartz, Ida Vanessa; Souza, Carolina Moura; Azevedo, Ana Cecília; Pinto, Louise Lapagesse; Bitar, Cristina; Giugliani, RobertoSeveral authors have described the occurrence of coarse granular cytoplasmic inclusions (the “AlderReilly Bodies”; ARB) in leukocytes of patients with Mucopolysaccharidosis VI (MPS VI; OMIM +253200). Aiming at estimating the frequency of ARB in MPS VI, we analyzed the reports of the peripheral blood counts routinely performed in the MPS VI patients at our hospital from 2002 to 2003 (35 reports of 17 patients; 9...