Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
Tylki-Szymańska, Anna
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy. [electronic resource] - Molecular genetics and metabolism Dec 2011 - 627-30 p. digital
Publication Type: Case Reports; Journal Article
1096-7206
10.1016/j.ymgme.2011.09.010 doi
1-Deoxynojirimycin--analogs & derivatives
Adult
Diagnostic Errors
Enzyme Inhibitors--therapeutic use
Female
Gaucher Disease--complications
Hepatomegaly--drug therapy
Humans
Male
Saposins--deficiency
Splenomegaly--drug therapy
Treatment Failure
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy. [electronic resource] - Molecular genetics and metabolism Dec 2011 - 627-30 p. digital
Publication Type: Case Reports; Journal Article
1096-7206
10.1016/j.ymgme.2011.09.010 doi
1-Deoxynojirimycin--analogs & derivatives
Adult
Diagnostic Errors
Enzyme Inhibitors--therapeutic use
Female
Gaucher Disease--complications
Hepatomegaly--drug therapy
Humans
Male
Saposins--deficiency
Splenomegaly--drug therapy
Treatment Failure