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Antigens, CD
Bortezomib
1
Carbohydrate Metabolism, Inborn Errors
1
Cells, Cultured
1
Endocytosis
1
Exome Sequencing
1
Female
1
Fibroblasts
1
HeLa Cells
1
Humans
1
Infant
1
Lactosylceramides
1
Lysosomes
1
Male
1
Mucopolysaccharidoses
1
Mutation, Missense
1
Phenotype
1
Proteasome Inhibitors
1
Protein Conformation
1
Pyrrolidines
1
Siberia
1
Vesicular Transport Proteins
1
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