Detalhe da pesquisa
1.
A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.
Proteomics
; 23(11): e2200378, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638187
2.
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Mol Genet Metab
; 140(3): 107656, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517328
3.
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
Orphanet J Rare Dis
; 19(1): 231, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38863022
4.
Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Orphanet J Rare Dis
; 17(1): 342, 2022 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064725