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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Bibliographic Details
Main Author: Coutinho, Maria Francisca (author)
Other Authors: Ouesleti, Souad (author), Ribeiro, Isaura (author), Miled, A. (author), Mosbahi, D.S. (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2016
Subjects:
Doenças Genéticas
Mucopolysaccharidoses
MPS II
MPS III C
MPS IIIA
MPS IIIB
MPS VI
Online Access:http://hdl.handle.net/10400.18/3602
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3602

Internet

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

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