Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L et al.
Embo Molecular Medicine, 2023
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Pekgül F et al.
Molecular Genetics and Metabolism Reports, 2020
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
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
[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
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
Clinical aspects of neuropathic lysosomal storage disorders.
Jardim LB et al.
Journal of Inherited Metabolic Disease, 2010
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
Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
Zafeiriou DI et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2008
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
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Annunziata I et al.
Human Mutation, 2007
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