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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2006 2
2007 4
2008 3
2009 2
2010 1
2011 2
2012 2
2013 2
2014 5
2015 3
2016 5
2017 1
2018 2
2019 1
2020 4
2021 5
2022 1
2023 3
2024 1

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43 results

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Page 1
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: rizzo c. 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 Review.
Retinal degeneration.
Morini C, Capozzi P, Boenzi S, Rizzo C, Santorelli FM, Dionisi-Vici C. Morini C, et al. Among authors: rizzo c. Ophthalmology. 2009 Aug;116(8):1593, 1593.e1. doi: 10.1016/j.ophtha.2009.03.039. Ophthalmology. 2009. PMID: 19651321 No abstract available.
Organic acidurias in Egyptian children: The urge for high-risk screening.
Mehaney DA, Seliem ZS, Selim LA, Khalil MS, Abou-Youssef HS, Elsayed EM, Abdou DM, Rizzo C, Dioniasi-Vici C, Abdelazim AM, Elkady SH. Mehaney DA, et al. Among authors: rizzo c. Pediatr Int. 2023 Jan;65(1):e15469. doi: 10.1111/ped.15469. Pediatr Int. 2023. PMID: 36609685
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: rizzo c. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093
Creatine metabolism in urea cycle defects.
Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C. Boenzi S, et al. Among authors: rizzo c. J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644604
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
Semeraro D, Verrocchio S, Di Dalmazi G, Rossi C, Pieragostino D, Cicalini I, Ferrante R, Di Michele S, Stuppia L, Rizzo C, Lepri FR, Novelli A, Dionisi-Vici C, De Laurenzi V, Bucci I. Semeraro D, et al. Among authors: rizzo c. Int J Environ Res Public Health. 2022 Jul 2;19(13):8141. doi: 10.3390/ijerph19138141. Int J Environ Res Public Health. 2022. PMID: 35805799 Free PMC article.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: rizzo c. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186. Hum Mutat. 2010. PMID: 20020533
43 results