Associated Papers
Copper in Human Health and Disease: Insights from Inherited Disorders.
Petruzzelli R et al.
Physiology (bethesda, Md.), 2025
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA et al.
Journal of Inherited Metabolic Disease, 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
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
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
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 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
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
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Dierks T et al.
Cell, 2005
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma MP et al.
Human Mutation, 2004
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