Article
[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].
Annales de biologie clinique - 1 Jan 2000
Khedhiri S, Chkioua L, Ferchichi S, Bouzidi H, Haj Khelil A, Ben Mansour R, Kassab A, M'dallah S, Chaabouni M, Jrad T, Ben Chibani J, Miled A, Laradi S
Abstract excerpt
Mucopolysaccharidosis type IV A (MPS IV A) is an autosomal recessive disorder resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and the progressive lysosomal accumulation of keratane sulfate. Clinically, the MPS IV A differs from the other MPS by the localisation of the keratane sulfate in skelet and in eyes associated to the conservation of a normal...
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