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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD. Cawley NX, et al. Among authors: farhat nm. Mol Genet Metab. 2023 Nov;140(3):107656. doi: 10.1016/j.ymgme.2023.107656. Epub 2023 Jul 23. Mol Genet Metab. 2023. PMID: 37517328
Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Solomon BI, Muñoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Solomon BI, et al. Among authors: farhat nm. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w. Orphanet J Rare Dis. 2022. PMID: 36064725 Free PMC article.
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