hrp0082p3-d3-862 | Growth (4) | ESPE2014
, Fedala Soumeya
, Chentli Farida
, Yaker Fetta Amel
, Ali Leila Ahmed
Background: Mucopolysaccharidosis 6 (MPS6) (or MaroteauxLamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior...