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Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/724

Título: Characterization of a comon IDUA in the Portuguese population
Autor: Ribeiro, Diogo
Duarte, Ana
Amaral, Olga
Palavras-chave: Doenças Genéticas
Doenças Metabólicas
MPS I
IDUA
Genetics
Issue Date: Nov-2011
Editora: SPDM
Resumo: Mucopolysaccharidosis type I (MPS I; OMIM #252800) is an autosomal recessive disorder, which results from the defective activity of the lysosomal enzyme α-L-iduronidase (IDUA, EC 3.2.1.76). In MPS I, this enzyme deficiency results in a progressive accumulation of the undegraded substrates within tissue lysosomes and fluids, leading to the clinical manifestations of the disease. W402X has been described as common in patients of European Caucasian origin. Moreover, this mutation has been considered to play an important role in terms of the pathophysiology of MPS I. The results of current functional experiments will be presented.
Descrição: DR is also in the Master Program of Health Sciences – H.S.S., University of Minho.
Arbitragem científica: yes
URI: http://hdl.handle.net/10400.18/724
Appears in Collections:DGH - Posters/abstracts em congressos nacionais

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