TY  - GEN
AU  - Tylki-Szymańska,Anna
AU  - Groener,Johanna E M
AU  - Kamiński,Marek Leszek
AU  - Ługowska,Agnieszka
AU  - Jurkiewicz,Elżbieta
AU  - Czartoryska,Barbara
TI  - Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy
SN  - 1096-7206
PY  - 2012///0315
KW  - 1-Deoxynojirimycin
KW  - analogs & derivatives
KW  - Adult
KW  - Diagnostic Errors
KW  - Enzyme Inhibitors
KW  - therapeutic use
KW  - Female
KW  - Gaucher Disease
KW  - complications
KW  - Hepatomegaly
KW  - drug therapy
KW  - Humans
KW  - Male
KW  - Saposins
KW  - deficiency
KW  - Splenomegaly
KW  - Treatment Failure
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ymgme.2011.09.010
ER  -