Navegação Ciências da Saúde por Assunto "Mucopolysaccharidosis I"
Resultados 1-3 de 3
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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
(2016) [Artigo de periódico]Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), ... -
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI : recomendações de um grupo de especialistas brasileiros
(2010) [Artigo de periódico]As 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 ... -
Understanding the early presentation of mucopolysaccharidoses disorders : results of a systematic literature review and physician survey
(2018) [Artigo de periódico]As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related ...