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- W2566360523 abstract "RESUMO A doença de Gaucher (DG) é a doença de depósito lisossômico mais prevalente, que se caracteriza pelo acúmulo de glicosilceramida e glucosilesfingosina em todos os tecidos do corpo. Com o advento da terapia de reposição de enzimas, o prognóstico dos pacientes com DG melhorou acentuadamente. Ainda assim, as manifestações esqueléticas associadas à DG respondem lentamente à terapia de reposição de enzimas e são as que contribuem de forma mais significativa para a morbidade do paciente. Esta revisão das manifestações ósseas da DG apresenta as mais recentes teorias sobre a sua fisiopatologia e uma revisão sistemática de estudos com pacientes latino-americanos que relataram a frequência das manifestações ósseas e os efeitos da terapia de reposição de enzimas sobre seu tratamento. Concluímos, destacando a importância da identificação precoce e do manejo adequado das doses apropriadas da terapia de reposição de enzimas para reduzir a morbidade causada pela DG." @default.
- W2566360523 created "2017-01-06" @default.
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- W2566360523 date "2016-12-01" @default.
- W2566360523 modified "2023-10-15" @default.
- W2566360523 title "DOENÇA DE GAUCHER TIPO 1 NO ESQUELETO: REVISÃO DA AMÉRICA LATINA" @default.
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- W2566360523 doi "https://doi.org/10.1590/s1808-185120161504166050" @default.
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