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Page 1
Propionic Acidemia.
Galarreta Aima CI, Shchelochkov OA, Jerves Serrano T, Venditti CP. Galarreta Aima CI, et al. Among authors: venditti cp. 2012 May 17 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2012 May 17 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 22593918 Free Books & Documents. Review.
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice.
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ. Mylvara AV, et al. Among authors: venditti cp. bioRxiv [Preprint]. 2024 Jun 8:2024.06.07.597901. doi: 10.1101/2024.06.07.597901. bioRxiv. 2024. PMID: 38895471 Free PMC article. Preprint.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP. Manoli I, et al. Among authors: venditti cp. JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097. JCI Insight. 2024. PMID: 38271099 Free PMC article.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP. Shchelochkov OA, et al. Among authors: venditti cp. Mol Psychiatry. 2024 Apr;29(4):974-981. doi: 10.1038/s41380-023-02385-5. Epub 2024 Jan 11. Mol Psychiatry. 2024. PMID: 38200289 Free PMC article.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP. Manoli I, et al. Among authors: venditti cp. J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6. J Inherit Metab Dis. 2023. PMID: 37243446 Free PMC article. Review.
111 results