Dionisi-Vici C - Search Results

1

Early neurodevelopmental characterization in children with cobalamin C/defect.

Ricci D, Martinelli D, Ferrantini G, Lucibello S, Gambardella M, Olivieri G, Chieffo D, Battaglia D, Diodato D, Iarossi G, Donati AM, Dionisi-Vici C, Battini R, Mercuri EM. Ricci D, et al. J Inherit Metab Dis. 2020 Mar;43(2):367-374. doi: 10.1002/jimd.12171. Epub 2020 Jan 16. J Inherit Metab Dis. 2020. PMID: 31503356

2

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

Deodato F, Rizzo C, Boenzi S, Baiocco F, Sabetta G, Dionisi-Vici C. Deodato F, et al. J Inherit Metab Dis. 2002 May;25(2):133-4. doi: 10.1023/a:1015632911801. J Inherit Metab Dis. 2002. PMID: 12118529

3

Assessment of visual function in children with methylmalonic aciduria and homocystinuria.

Ricci D, Pane M, Deodato F, Vasco G, Randò T, Caviglia S, Dionisi-Vici C, Mercuri E. Ricci D, et al. Neuropediatrics. 2005 Jun;36(3):181-5. doi: 10.1055/s-2005-865609. Neuropediatrics. 2005. PMID: 15944903

4

MRI and 1H-MRS findings in early-onset cobalamin C/D defect.

Longo D, Fariello G, Dionisi-Vici C, Cannatà V, Boenzi S, Genovese E, Deodato F. Longo D, et al. Neuropediatrics. 2005 Dec;36(6):366-72. doi: 10.1055/s-2005-873057. Neuropediatrics. 2005. PMID: 16429376

5

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Cavicchi C, Donati MA, Pasquini E, Poggi GM, Dionisi-Vici C, Parini R, Zammarchi E, Morrone A. Cavicchi C, et al. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

6

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C. Di Rosa G, et al. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736096

7

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. Dionisi-Vici C, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. J Inherit Metab Dis. 2006. PMID: 16763906 Review.

8

Cobalamin C defect: natural history, pathophysiology, and treatment.

Martinelli D, Deodato F, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2011 Feb;34(1):127-35. doi: 10.1007/s10545-010-9161-z. Epub 2010 Jul 15. J Inherit Metab Dis. 2011. PMID: 20632110 Review.

9

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C. Martinelli D, et al. Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10. Eur J Pediatr. 2011. PMID: 21153419

10

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Boenzi S, Rizzo C, Di Ciommo VM, Martinelli D, Goffredo BM, la Marca G, Dionisi-Vici C. Boenzi S, et al. J Pharm Biomed Anal. 2011 Dec 5;56(4):792-8. doi: 10.1016/j.jpba.2011.06.006. Epub 2011 Jun 16. J Pharm Biomed Anal. 2011. PMID: 21742455

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