Boenzi S - Search Results

1

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

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

3

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. Among authors: boenzi s. 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

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. Among authors: boenzi s. 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

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

6

Methylmalonic and propionic aciduria.

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Deodato F, et al. Among authors: boenzi s. 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.

7

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: boenzi s. 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

8

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: boenzi s. 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.

9

Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.

Duranti G, Boenzi S, Rizzo C, Ravà L, Di Ciommo V, Carrozzo R, Meschini MC, Johnson DW, Dionisi-Vici C. Duranti G, et al. Among authors: boenzi s. Clin Chim Acta. 2008 Dec;398(1-2):86-9. doi: 10.1016/j.cca.2008.08.018. Epub 2008 Aug 28. Clin Chim Acta. 2008. PMID: 18793625

10

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

Sirleto P, Surace C, Santos H, Bertini E, Tomaiuolo AC, Lombardo A, Boenzi S, Bevivino E, Dionisi-Vici C, Angioni A. Sirleto P, et al. Among authors: boenzi s. Pediatr Res. 2009 Mar;65(3):347-51. doi: 10.1203/PDR.0b013e3181973b4e. Pediatr Res. 2009. PMID: 19092723

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