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
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Schlotawa L et al.
Journal of Inherited Metabolic Disease, 2020
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 evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
Kotecha UH et al.
The Indian Journal of Medical Research, 2014
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Meng Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
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