共 50 条
- [1] Late infantile form of multiple sulfatase deficiency ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2020, : 1 - 4
- [5] 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
- [9] A CASE OF LATE VARIANT FORM OF INFANTILE KRABBE DISEASE WITH A PARTIAL DEFICIENCY OF GALACTOCEREBROSIDASE BRAIN & DEVELOPMENT, 1988, 10 (01): : 45 - 46
- [10] Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency Acta Neurologica Belgica, 2017, 117 : 779 - 780