Mucopolysaccharidoses in Tunisia: a molecular portrait of allelic heterogeneity and consanguinity

There are 11 different enzymes involved in the stepwise degradation of glycosaminoglycans (GAGs). Deficiencies in each of those enzymes result in eight different Mucopolysaccharidoses (MPSs), all sharing a series of clinical features, though in variable degrees. Typical symptoms include organomegall...

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Detalhes bibliográficos
Autor principal: Coutinho, Maria Francisca (author)
Outros Autores: Ouesleti, Souad (author), Ribeiro, Isaura (author), Miled, A. (author), Mosbahi, D.S. (author), Alves, Sandra (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2016
Assuntos:
Doenças Genéticas
Mucopolysaccharidoses
MPS II
MPS III C
MPS IIIA
MPS IIIB
MPS VI
Texto completo:http://hdl.handle.net/10400.18/3602
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3602

Texto Completo

http://hdl.handle.net/10400.18/3602

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