Associated Papers
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.
Pillai NR et al.
Communications Medicine, 2025
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
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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