Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis
نویسندگان
چکیده
منابع مشابه
GM1 Gangliosidosis Test
The GM1 Gangliosidosis Test provides a high quality read-out of all exons of GLB1 gene. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The GM1 Gangliosidosis Test has undergone rigorous validation process...
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A female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance. She had a higher residual leucocyte 13-galactosidase activity towards two synthetic substrates, namely p-nitrophenyl-f3-D-galactoside (PNP-1...
متن کاملExpression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by beta-galactosidase deficiency attributable to mutations in the GLB1 gene. On reaching the endosomal-lysosomal compartment, the beta-galactosidase protein associates with the protective protein/cathepsin A (PPCA) and neuraminidase proteins to form the lysosomal multienzyme complex (LMC). The correct interaction of...
متن کاملPeripheral blood findings in GM1 gangliosidosis.
T his peripheral blood is from a 3-month-old male patient with a prior diagnosis of GM1 gangliosidosis type I, who was admitted with fever and leukocytosis. There is a family history of 2 siblings with GM1 gangliosidosis. Cellulitis was diagnosed and successfully treated with antibiotics. This photomicrograph depicts the typical peripheral blood findings in GM1 gangliosidosis: a vacuolated lymp...
متن کاملPhenotypic and genotypic characterization of Candida species isolated from candideamia in Iran
Background and Purpose: Candidemia is one of the most important fungal infections caused by Candida species. Infections and mortality caused by Candida species have been on a growing trend during the past two decades. The resistance of yeasts to antifungal drugs and their epidemiological issues have highlighted the importance of accurately distinguishing the yeasts at the species level. The tec...
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ژورنال
عنوان ژورنال: Gene
سال: 2013
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.09.106