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
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Beck-Wödl S et al.
Jimd Reports, 2021
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L et al.
International Journal of Molecular Sciences, 2020
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Schlotawa L et al.
Human Mutation, 2008
Sulfatases and human disease.
Diez-Roux G et al.
Annual Review of Genomics and Human Genetics, 2005
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma MP et al.
Human Mutation, 2004
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