Associated Papers
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA et al.
Journal of Inherited Metabolic Disease, 2024
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
Sheth J et al.
Bmc Pediatrics, 2023
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA et al.
Journal of Inherited Metabolic Disease, 2020
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