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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Untranslated regions (UTRs) are a potential novel source of neoantigens for personalised immunotherapy.
Sng CCT et al.
Frontiers in Immunology, 2024
38558815 (PubMed )
Supplement: Table_1.xlsx › S1_c
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
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
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
Dilated cardiomyopathy in mucolipidosis type 2.
Carboni E et al.
Journal of Biological Regulators and Homeostatic Agents, 0
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