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
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Meshach Paul D et al.
Journal of Biomolecular Structure & Dynamics, 2018
Identification of Sequence Variants within Experimentally Validated Protein Interaction Sites Provides New Insights into Molecular Mechanisms of Disease Development.
Skrlj B et al.
Molecular Informatics, 2017
[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
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
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
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Dierks T et al.
Cell, 2003
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Cosma MP et al.
Cell, 2003
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