Associated Papers
Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.
Lipiński P et al.
Journal of Applied Genetics, 2025
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
Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.
Zhang J et al.
Journal of Clinical Laboratory Analysis, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1
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
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
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Artigalás OA et al.
Metabolic Brain Disease, 2009
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Annunziata I et al.
Human Mutation, 2007
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
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