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Items: 31

1.

Biomarkers for mitochondrial energy metabolism diseases.

Boenzi S, Diodato D.

Essays Biochem. 2018 Jul 20;62(3):443-454. doi: 10.1042/EBC20170111. Print 2018 Jul 20. Review.

PMID:
29980631
2.

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Semeraro M, Boenzi S, Carrozzo R, Diodato D, Martinelli D, Olivieri G, Antonetti G, Sacchetti E, Catesini G, Rizzo C, Dionisi-Vici C.

Clin Chim Acta. 2018 Jun;481:156-160. doi: 10.1016/j.cca.2018.03.002. Epub 2018 Mar 10.

PMID:
29534959
4.

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

Boenzi S, Deodato F, Taurisano R, Goffredo BM, Rizzo C, Dionisi-Vici C.

J Lipid Res. 2016 Mar;57(3):361-7. doi: 10.1194/jlr.M061978. Epub 2016 Jan 5.

5.

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C.

Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Review.

6.

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

Caterino M, Pastore A, Strozziero MG, Di Giovamberardino G, Imperlini E, Scolamiero E, Ingenito L, Boenzi S, Ceravolo F, Martinelli D, Dionisi-Vici C, Ruoppolo M.

J Inherit Metab Dis. 2015 Sep;38(5):969-79. doi: 10.1007/s10545-014-9806-4. Epub 2015 Jan 14.

PMID:
25585586
7.

Determination of plasma pipecolic acid by an easy and rapid liquid chromatography-tandem mass spectrometry method.

Semeraro M, Muraca M, Catesini G, Inglese R, Iacovone F, Barraco GM, Manco M, Boenzi S, Dionisi-Vici C, Rizzo C.

Clin Chim Acta. 2015 Feb 2;440:108-12. doi: 10.1016/j.cca.2014.11.014. Epub 2014 Nov 15.

PMID:
25447702
8.

Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1.

Maiorana A, Malamisura M, Emma F, Boenzi S, Di Ciommo VM, Dionisi-Vici C.

Mol Genet Metab. 2014 Nov;113(3):188-93. doi: 10.1016/j.ymgme.2014.07.021. Epub 2014 Aug 1.

PMID:
25172236
9.

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.

Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW.

Clin Chim Acta. 2014 Nov 1;437:93-100. doi: 10.1016/j.cca.2014.07.010. Epub 2014 Jul 16.

PMID:
25038260
10.

Gender-related effects on urine L-cystine metastability.

Masotti A, Laurenzi C, Boenzi S, Pastore A, Taranta A, Bellomo F, Muraca M, Dionisi-Vici C, Bertucci P, Dello Strologo L, Emma F.

Amino Acids. 2014 Feb;46(2):415-27. doi: 10.1007/s00726-013-1631-9. Epub 2013 Dec 11.

PMID:
24327171
11.

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry.

Rizzo C, Boenzi S, Inglese R, la Marca G, Muraca M, Martinez TB, Johnson DW, Zelli E, Dionisi-Vici C.

Clin Chim Acta. 2014 Feb 15;429:30-3. doi: 10.1016/j.cca.2013.11.016. Epub 2013 Nov 22.

PMID:
24269713
12.

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.

Dionisi-Vici C, Martinelli D, Ceravolo F, Boenzi S, Pastore A.

Mol Genet Metab. 2013 Aug;109(4):329-30. doi: 10.1016/j.ymgme.2013.05.013. Epub 2013 May 29. No abstract available.

PMID:
23764205
13.

Cobalamin C defect presenting with isolated pulmonary hypertension.

Iodice FG, Di Chiara L, Boenzi S, Aiello C, Monti L, Cogo P, Dionisi-Vici C.

Pediatrics. 2013 Jul;132(1):e248-51. doi: 10.1542/peds.2012-1945. Epub 2013 Jun 10.

PMID:
23753090
14.

Glutathione metabolism in cobalamin deficiency type C (cblC).

Pastore A, Martinelli D, Piemonte F, Tozzi G, Boenzi S, Di Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C.

J Inherit Metab Dis. 2014 Jan;37(1):125-9. doi: 10.1007/s10545-013-9605-3. Epub 2013 Apr 9.

PMID:
23568438
15.

Pediatric reference intervals for muscle coenzyme Q(10).

Pastore A, Di Giovamberardino G, Petrillo S, Boenzi S, Bertini E, Dionisi-Vici C, Piemonte F.

Biomarkers. 2012 Dec;17(8):764-6. doi: 10.3109/1354750X.2012.727029. Epub 2012 Oct 1.

PMID:
23020092
16.

Creatine metabolism in urea cycle defects.

Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C.

J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30.

PMID:
22644604
17.

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.

J Inherit Metab Dis. 2012 Sep;35(5):761-76. doi: 10.1007/s10545-011-9411-8. Epub 2011 Dec 15.

PMID:
22170564
18.

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.

Anal Chem. 2012 Jan 17;84(2):1184-8. doi: 10.1021/ac202695h. Epub 2011 Dec 29. Erratum in: Anal Chem. 2014 Oct 21;86(20):10501.

PMID:
22148291
19.

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.

J Pharm Biomed Anal. 2011 Dec 5;56(4):792-8. doi: 10.1016/j.jpba.2011.06.006. Epub 2011 Jun 16.

PMID:
21742455
20.

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.

Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10.

PMID:
21153419
21.

Retinal degeneration.

Morini C, Capozzi P, Boenzi S, Rizzo C, Santorelli FM, Dionisi-Vici C.

Ophthalmology. 2009 Aug;116(8):1593, 1593.e1. doi: 10.1016/j.ophtha.2009.03.039. No abstract available.

PMID:
19651321
22.

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.

Pediatr Res. 2009 Mar;65(3):347-51. doi: 10.1203/PDR.0b013e3181973b4e.

PMID:
19092723
23.

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.

Clin Chim Acta. 2008 Dec;398(1-2):86-9. doi: 10.1016/j.cca.2008.08.018. Epub 2008 Aug 28.

PMID:
18793625
24.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C.

Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27.

PMID:
18164228
25.

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.

Neurology. 2007 Apr 17;68(16):1320-1. No abstract available.

PMID:
17438226
26.

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.

J Inherit Metab Dis. 2006 Aug;29(4):546-50. Epub 2006 May 30.

PMID:
16736096
27.

Methylmalonic and propionic aciduria.

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. Review.

PMID:
16602092
28.

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.

Neuropediatrics. 2005 Dec;36(6):366-72.

PMID:
16429376
29.

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.

Acta Paediatr Suppl. 2004 May;93(445):18-21.

PMID:
15176714
30.

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.

Pediatr Res. 2003 Jun;53(6):1013-8. Epub 2003 Mar 19.

PMID:
12646728
31.

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

Deodato F, Rizzo C, Boenzi S, Baiocco F, Sabetta G, Dionisi-Vici C.

J Inherit Metab Dis. 2002 May;25(2):133-4.

PMID:
12118529

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