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
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L et al.
Embo Molecular Medicine, 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
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
Ashrafzadeh F et al.
International Journal of Dermatology, 2018
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Schlotawa L et al.
Cell Reports, 2018
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
Zilberman U et al.
Jimd Reports, 2016
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F et al.
Orphanet Journal of Rare Diseases, 2015
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
Schlotawa L et al.
European Journal of Human Genetics : Ejhg, 2013
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Schlotawa L et al.
European Journal of Human Genetics : Ejhg, 2011
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Dierks T et al.
Biochimica Et Biophysica Acta, 2009
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Dierks T et al.
Cell, 2005
Select a paper to view details