Associated Papers
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.
Terawaki S et al.
International Journal of Molecular Sciences, 2025
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
Yang M et al.
Orphanet Journal of Rare Diseases, 2017
Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation.
Takanashi J et al.
Brain & Development, 2012
Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.
Otomo T et al.
The Journal of Biological Chemistry, 2011
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Otomo T et al.
Journal of Human Genetics, 2009
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