Documents Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1- phosphotransferase gene...

Mucolipidosis II: a single causal mutation in the Nacetylglucosamine1phosphotransferase gene (GNPTAB) in a French Canadian founder populationClin Genet 2008: 73: 236–244

Documents Molecular Genetics and Diagnostic Approach of Mucolipidosis II/III

Introduction Mucolipidosis (ML) II/III are autosomal recessive diseases caused by deficiency of post-translational modification of lyso- somal enzymes. Targeting of newly