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