Rizzo C - Search Results

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 Free PMC article. Review.

2

Intravenous immune globulin in lysinuric protein intolerance.

Dionisi-Vici C, De Felice L, el Hachem M, Bottero S, Rizzo C, Paoloni A, Goffredo B, Sabetta G, Caniglia M. Dionisi-Vici C, et al. Among authors: rizzo c. J Inherit Metab Dis. 1998 Apr;21(2):95-102. doi: 10.1023/a:1005383307100. J Inherit Metab Dis. 1998. PMID: 9584260

3

Pyroglutamic aciduria and nephropathic cystinosis.

Rizzo C, Ribes A, Pastore A, Dionisi-Vici C, Greco M, Rizzoni G, Federici G. Rizzo C, et al. J Inherit Metab Dis. 1999 May;22(3):224-6. doi: 10.1023/a:1005545012776. J Inherit Metab Dis. 1999. PMID: 10384373 No abstract available.

4

A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients.

Rizzo C, Dionisi-Vici C, D'Ippoliti M, Fina F, Sabetta G, Federici G. Rizzo C, et al. Clin Chim Acta. 2000 Jan 20;291(1):97-102. doi: 10.1016/s0009-8981(99)00197-7. Clin Chim Acta. 2000. PMID: 10612721 No abstract available.

5

Oxidative abnormalities in Menkes disease.

Rizzo C, Bertini E, Piemonte F, Leuzzi V, Sabetta G, Federici G, Luchetti A, Dionisi-Vici C. Rizzo C, et al. J Inherit Metab Dis. 2000 Jun;23(4):349-51. doi: 10.1023/a:1005675012708. J Inherit Metab Dis. 2000. PMID: 10896291 No abstract available.

6

Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.

Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D. Dionisi-Vici C, et al. Among authors: rizzo c. J Pediatr. 2002 Mar;140(3):321-7. doi: 10.1067/mpd.2002.122394. J Pediatr. 2002. PMID: 11953730

7

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. Among authors: rizzo c. J Inherit Metab Dis. 2002 May;25(2):133-4. doi: 10.1023/a:1015632911801. J Inherit Metab Dis. 2002. PMID: 12118529

8

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry.

Rizzo C, Boenzi S, Wanders RJ, Duran M, Caruso U, Dionisi-Vici C. Rizzo C, et al. Pediatr Res. 2003 Jun;53(6):1013-8. doi: 10.1203/01.PDR.0000064902.59052.0F. Epub 2003 Mar 19. Pediatr Res. 2003. PMID: 12646728

9

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. Among authors: rizzo c. Acta Paediatr Suppl. 2004 May;93(445):18-21. doi: 10.1111/j.1651-2227.2004.tb03050.x. Acta Paediatr Suppl. 2004. PMID: 15176714

10

A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

Mir C, Lopez-Viñas E, Aledo R, Puisac B, Rizzo C, Dionisi-Vici C, Deodato F, Pié J, Gomez-Puertas P, Hegardt FG, Casals N. Mir C, et al. Among authors: rizzo c. J Inherit Metab Dis. 2006 Feb;29(1):64-70. doi: 10.1007/s10545-006-0138-x. J Inherit Metab Dis. 2006. PMID: 16601870

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