• A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
• Biochemical signatures of disease severity in multiple sulfatase deficiency
• Chitotriosidase as a biomarker for gangliosidoses
• Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
• Early and late brain resonance findings of two siblings with Hunter syndrome
• Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting
• Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency
• Genome-wide screens uncover KDM2B as a modifier of protein binding to heparan sulfate
• Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme <em>N</em>-acetylgalactosamine-6-sulfatase (GALNS)
• Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS)
• Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
• Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales
• iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II
• Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review
• Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential
• Mucopolysaccharidosis Type II
• Mucopolysaccharidosis Type II
• Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review
• New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency
• Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
• Pitfalls in Genetic Testing for Consanguineous Pediatric Populations
• The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency
• The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency
• Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency
• Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis