Introduction Mucolipidosis type II (MLII; MIM#252500) and type III alpha/ beta (MLIIIA; MIM#252600) are very rare lysosomal storage dis- eased caused by deficient activity

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case reportCASE REPORT Open Access GNPTAB c.2404C > T nonsense mutation in a

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

Original Article Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families Fang Yu1*, Jie-Yuan Jin2*, Ji-Qiang He1, Liang-Liang

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