TY  - GEN
AU  - Schlotawa,Lars
AU  - Radhakrishnan,Karthikeyan
AU  - Baumgartner,Matthias
AU  - Schmid,Regula
AU  - Schmidt,Bernhard
AU  - Dierks,Thomas
AU  - Gärtner,Jutta
TI  - Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
SN  - 1476-5438
PY  - 2014///0324
KW  - Cell Line, Tumor
KW  - Child, Preschool
KW  - Enzyme Stability
KW  - genetics
KW  - Fatal Outcome
KW  - Female
KW  - Humans
KW  - Molecular Diagnostic Techniques
KW  - Multiple Sulfatase Deficiency Disease
KW  - diagnosis
KW  - Oxidoreductases Acting on Sulfur Group Donors
KW  - Sulfatases
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2012.291
ER  -