Detalhe da pesquisa
1.
A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.
J Clin Endocrinol Metab
; 102(5): 1454-1457, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28201738
2.
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.
Sci Transl Med
; 7(276): 276ra26, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25717099
3.
Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C.
J Neuropathol Exp Neurol
; 72(3): 256-62, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23399903