Associated Papers
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
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Staretz-Chacham O et al.
Molecular Genetics & Genomic Medicine, 2020
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