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
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
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
Late infantile form of multiple sulfatase deficiency.
Mohammadian Khonsari N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Schlotawa L et al.
Cell Reports, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R et al.
Molecular Genetics and Metabolism, 2018
Multiple sulfatase deficiency: A case series of four children.
Incecik F et al.
Annals of Indian Academy of Neurology, 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
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
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Yiş U et al.
Brain & Development, 2008
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Dierks T et al.
Cell, 2005
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Nur BG et al.
The Turkish Journal of Pediatrics, 0
Neuro-ichthyotic Syndromes: A Case Series.
Incecık F et al.
Journal of Pediatric Neurosciences, 0