Rizzo C - Search Results

1

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio MC, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli FM. Patrono C, et al. Among authors: rizzo c. Mol Cell Probes. 2002 Aug;16(4):315-8. doi: 10.1006/mcpr.2002.0426. Mol Cell Probes. 2002. PMID: 12270273

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

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: rizzo c. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

6

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

Dionisi-Vici C, Hoffmann GF, Leuzzi V, Hoffken H, Bräutigam C, Rizzo C, Steebergen-Spanjers GC, Smeitink JA, Wevers RA. Dionisi-Vici C, et al. Among authors: rizzo c. J Pediatr. 2000 Apr;136(4):560-2. doi: 10.1016/s0022-3476(00)90027-1. J Pediatr. 2000. PMID: 10753262 Review.

7

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.

8

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C. Salvi S, et al. Among authors: rizzo c. Neurology. 2001 Sep 11;57(5):911-4. doi: 10.1212/wnl.57.5.911. Neurology. 2001. PMID: 11552031

9

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.

Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M, Sabetta G, Rizzoni G, Bartuli A. Picca S, et al. Among authors: rizzo c. Pediatr Nephrol. 2001 Nov;16(11):862-7. doi: 10.1007/s004670100702. Pediatr Nephrol. 2001. PMID: 11685590

10

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

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