Associated Papers
Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.
Feng Y et al.
Bmc Pediatrics, 2024
Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.
Matos L et al.
Human Gene Therapy, 2020
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
Li D et al.
Prenatal Diagnosis, 2018
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Raza MH et al.
European Journal of Human Genetics : Ejhg, 2016
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