نتایج جستجو برای: maroteaux
تعداد نتایج: 191 فیلتر نتایج به سال:
Introdução: A mucopolissacaridose tipo VI (MPS VI) ou síndrome de Maroteaux-Lamy é uma doença metabólica rara, hereditária, conhecida como depósito lisossomal onde os pacientes apresentam deformidades progressivas. Há necessidade se entender comporta o centro gravidade (CG) desses pacientes, forma prevenir quedas e direcionar a terapêutica. Objetivo: Avaliar projeção do estática crianças adoles...
PURPOSE To present a case of Maroteaux-Lamy syndrome (MLS), which underwent deep anterior lamellar keratoplasty (DALK) for visual rehabilitation. METHODS A 15-year-old girl with MLS was admitted with severe corneal opacity. We performed DALK on her left eye for visual rehabilitation. Big-bubble technique was used to perform lamellar separation. RESULTS Corneal graft was clear 24 months afte...
Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and ...
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