Associated Papers
Curated incidence of lysosomal storage diseases from the Taiwan Biobank.
Tsai MM et al.
Npj Genomic Medicine, 2023
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Martins C et al.
Human Mutation, 2019
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
Huh HJ et al.
Annals of Laboratory Medicine, 2013
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.
Yoon YA et al.
Annals of Clinical and Laboratory Science, 2012
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