Associated Papers
Copper in Human Health and Disease: Insights from Inherited Disorders.
Petruzzelli R et al.
Physiology (bethesda, Md.), 2025
Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model.
Presa M et al.
Communications Medicine, 2024
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA et al.
Journal of Inherited Metabolic Disease, 2024
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Pham V et al.
Molecular Genetics and Metabolism, 2024
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
Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review.
Schittkowski MP et al.
Children (basel, Switzerland), 2023
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L et al.
Embo Molecular Medicine, 2023
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Sorrentino NC et al.
Journal of Inherited Metabolic Disease, 2023
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
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh M et al.
Case Reports in Genetics, 2022
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Hirst L et al.
Case Reports in Pediatrics, 2021
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
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA et al.
Journal of Inherited Metabolic Disease, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Prevalence of clinically actionable disease variants in exceptionally long-lived families.
Carlson P et al.
Bmc Medical Genomics, 2020
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R et al.
Molecular Genetics and Metabolism, 2018
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
A Patient With Atypical Multiple Sulfatase Deficiency.
Miskin C et al.
Pediatric Neurology, 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
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Prasad C et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014
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 analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Schlotawa L et al.
Human Mutation, 2008
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