Boenzi S - Search Results

1

LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I.

la Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C. la Marca G, et al. Among authors: boenzi s. Anal Chem. 2012 Jan 17;84(2):1184-8. doi: 10.1021/ac202695h. Epub 2011 Dec 29. Anal Chem. 2012. PMID: 22148291

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

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

5

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.

6

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

7

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

8

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C. Martinelli D, et al. Among authors: boenzi s. Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10. Eur J Pediatr. 2011. PMID: 21153419

9

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

10

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.

Martinelli D, Häberle J, Rubio V, Giunta C, Hausser I, Carrozzo R, Gougeard N, Marco-Marín C, Goffredo BM, Meschini MC, Bevivino E, Boenzi S, Colafati GS, Brancati F, Baumgartner MR, Dionisi-Vici C. Martinelli D, et al. Among authors: boenzi s. J Inherit Metab Dis. 2012 Sep;35(5):761-76. doi: 10.1007/s10545-011-9411-8. Epub 2011 Dec 15. J Inherit Metab Dis. 2012. PMID: 22170564

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