Associated Papers
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 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
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L et al.
Human Mutation, 2007
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