Deodato F - Search Results

1

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy.

Diodato D, Olivieri G, Pro S, Maiorani D, Martinelli D, Deodato F, Taurisano R, Di Capua M, Dionisi-Vici C. Diodato D, et al. Among authors: deodato f. Neurology. 2018 Sep 18;91(12):565-567. doi: 10.1212/WNL.0000000000006209. Epub 2018 Aug 17. Neurology. 2018. PMID: 30120134 No abstract available.

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

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.

Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E. Fogli A, et al. Among authors: deodato f. Neurology. 2002 Dec 24;59(12):1966-8. doi: 10.1212/01.wnl.0000041666.76863.47. Neurology. 2002. PMID: 12499492

4

Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia.

Deodato F, Boenzi S, Rizzo C, Abeni D, Caviglia S, Picca S, Bartuli A, Dionisi-Vici C. Deodato F, et al. Acta Paediatr Suppl. 2004 May;93(445):18-21. doi: 10.1111/j.1651-2227.2004.tb03050.x. Acta Paediatr Suppl. 2004. PMID: 15176714

5

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. Among authors: deodato f. Neuropediatrics. 2005 Jun;36(3):181-5. doi: 10.1055/s-2005-865609. Neuropediatrics. 2005. PMID: 15944903

6

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. Among authors: deodato f. Neuropediatrics. 2005 Dec;36(6):366-72. doi: 10.1055/s-2005-873057. Neuropediatrics. 2005. PMID: 16429376

7

Methylmalonic and propionic aciduria.

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Deodato F, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. doi: 10.1002/ajmg.c.30090. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602092 Review.

8

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. Among authors: deodato f. 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

9

'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. Among authors: deodato f. 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.

10

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: deodato f. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081

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