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- [2] Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS, 2018, 36 (13): : 3575 - 3585
- [5] SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency European Journal of Human Genetics, 2011, 19 : 253 - 261
- [9] Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency European Journal of Human Genetics, 2013, 21 : 1020 - 1023