Associated Papers
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Puentes-Tellez MA et al.
Heliyon, 2020
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R et al.
Human Mutation, 2018
30118150 (PubMed )
Supplement: HUMU-39-1788-s001.pdf
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Giraldo GA et al.
Meta Gene, 2016
Mutations in ARSB in MPS VI patients in India.
Mathew J et al.
Molecular Genetics and Metabolism Reports, 2015
26937411 (PubMed )
Supplement: mmc1.pdf
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L et al.
Human Mutation, 2007
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