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

Documents Mucolipidosis II and III

Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. O T Mueller, … , A L Miller, T B Shows J Clin Invest. 1983;72(3):1016-1023.