4 documents found, page 1 of 1
Relative frequency and estimated minimal frequency of Lysosomal Storage Disease...
Giugliani,Roberto; Federhen,Andressa; Michelin-Tirelli,Kristiane; Riegel,Mariluce; Burin,MairaAbstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM...
Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosamin...
Baldo,Guilherme; Poswar,Fabiano; Federhen,Andressa; Bittar,Camila; Gus,Rejane; Bender,Fernanda; Giugliani,RobertoAbstract Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate. Recently enzyme replacement therapy (ERT) was approved for MPS IVA, but some of ERT effects are still unknown. In the present study, we aimed to evaluate the efficacy of elosulfase alf...
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verônica; Vieira,Taiane; Artigalás,Osvaldo; Lapagesse Pinto,Louise; Azevedo,Ana CecíliaMucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treat...
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recome...
Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verónica; Vieira,Taiane Alves; Artigalás,Osvaldo; Pinto,Louise Lapagesse CarmargoAs mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardi...