Deodato F - Search Results

1

The contribution of plasma oxysterols in the challenging diagnostic work-up of infantile cholestasis.

Pietrobattista A, Veraldi S, Candusso M, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Sacchetti E, Catesini G, Deodato F, Boenzi S, Dionisi-Vici C. Pietrobattista A, et al. Among authors: deodato f. Clin Chim Acta. 2020 Aug;507:181-186. doi: 10.1016/j.cca.2020.04.028. Epub 2020 Apr 27. Clin Chim Acta. 2020. PMID: 32353361

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

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

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

5

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.

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. 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

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. 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.

8

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

9

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

Leuzzi V, Di Sabato ML, Deodato F, Rizzo C, Boenzi S, Carducci C, Malaspina P, Liberanome C, Dionisi-Vici C. Leuzzi V, et al. Among authors: deodato f. Neurology. 2007 Apr 17;68(16):1320-1. doi: 10.1212/01.wnl.0000259537.54082.6d. Neurology. 2007. PMID: 17438226 Free article. No abstract available.

10

MRI findings in an adolescent with type I citrullinaemia.

Longo D, Delfino L, Genovese E, Cannatà V, Deodato F, Dionisi-Vici C, Goffredo B, Fariello G. Longo D, et al. Among authors: deodato f. Pediatr Radiol. 2008 Feb;38(2):237-40. doi: 10.1007/s00247-007-0650-7. Epub 2007 Oct 23. Pediatr Radiol. 2008. PMID: 17955234

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

314 results

Search Page

Filters