20022019

Research output per year

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2019

Screening for Niemann-Pick type C disease in neurodegenerative diseases

Boenzi, S., Dardis, A., Russo, P., Bellofatto, M., Imbriglio, T., Fico, T., De Michele, G. & De Rosa, A., Jun 17 2019, In : Journal of Clinical Neuroscience.

Research output: Contribution to journalArticle

2018

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., Jun 2018, In : Clinica Chimica Acta. 481, p. 156-160 5 p.

Research output: Contribution to journalArticle

2016
2015

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, G. M., Manco, M., Boenzi, S., Dionisi-Vici, C. & Rizzo, C., Feb 2 2015, In : Clinica Chimica Acta. 440, p. 108-112 5 p.

Research output: Contribution to journalArticle

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Martinelli, D., Diodato, D., Ponzi, E., Monné, M., Boenzi, S., Bertini, E., Fiermonte, G. & Dionisi-Vici, C., Mar 11 2015, (Accepted/In press) In : Orphanet Journal of Rare Diseases. p. 1-17 17 p.

Research output: Contribution to journalArticle

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

Caterino, M., Pastore, A., Strozziero, M. G., Di Giovamberardino, G., Imperlini, E., Scolamiero, E., Ingenito, L., Boenzi, S., Ceravolo, F., Martinelli, D., Dionisi-Vici, C. & Ruoppolo, M., Oct 1 2015, In : Journal of Inherited Metabolic Disease. 38, 5, p. 969-979 11 p.

Research output: Contribution to journalArticle

2014

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

Maiorana, A., Malamisura, M., Emma, F., Boenzi, S., Di Ciommo, V. M. & Dionisi-Vici, C., Nov 1 2014, In : Molecular Genetics and Metabolism. 113, 3, p. 188-193 6 p.

Research output: Contribution to journalArticle

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., Strologo, L. D. & Emma, F., Feb 2014, In : Amino Acids. 46, 2, p. 415-427 13 p.

Research output: Contribution to journalArticle

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., Jan 2014, In : Journal of Inherited Metabolic Disease. 37, 1, p. 125-129 5 p.

Research output: Contribution to journalArticle

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, T. B., Johnson, D. W., Zelli, E. & Dionisi-Vici, C., Feb 15 2014, In : Clinica Chimica Acta. 429, p. 30-33 4 p.

Research output: Contribution to journalArticle

2013

Cobalamin c defect presenting with isolated pulmonary hypertension

Iodice, F. G., Chiara, L. D., Boenzi, S., Aiello, C., Monti, L., Cogo, P. & Dionisi-Vici, C., Jul 1 2013, In : Pediatrics. 132, 1

Research output: Contribution to journalArticle

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

Dionisi-Vici, C., Martinelli, D., Ceravolo, F., Boenzi, S. & Pastore, A., Aug 2013, In : Molecular Genetics and Metabolism. 109, 4, p. 329-330 2 p.

Research output: Contribution to journalArticle

2012

Creatine metabolism in urea cycle defects

Boenzi, S., Pastore, A., Martinelli, D., Goffredo, B. M., Boiani, A., Rizzo, C. & Dionisi-Vici, C., Jul 2012, In : Journal of Inherited Metabolic Disease. 35, 4, p. 647-653 7 p.

Research output: Contribution to journalArticle

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, M. L., Boenzi, S., Martinelli, D. & Dionisi-Vici, C., Jan 17 2012, In : Analytical Chemistry. 84, 2, p. 1184-1188 5 p.

Research output: Contribution to journalArticle

Pediatric reference intervals for muscle coenzyme Q10

Pastore, A., Di Giovamberardino, G., Petrillo, S., Boenzi, S., Bertini, E., Dionisi-Vici, C. & Piemonte, F., Dec 2012, In : Biomarkers. 17, 8, p. 764-766 3 p.

Research output: Contribution to journalArticle

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, B. M., Meschini, M. C., Bevivino, E., Boenzi, S., Colafati, G. S., Brancati, F., Baumgartner, M. R. & Dionisi-Vici, C., Sep 2012, In : Journal of Inherited Metabolic Disease. 35, 5, p. 761-776 16 p.

Research output: Contribution to journalArticle

2011

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., Jul 2011, In : European Journal of Pediatrics. 170, 7, p. 887-890 4 p.

Research output: Contribution to journalArticle

2009

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, A. C., Lombardo, A., Boenzi, S., Bevivino, E., Dionisi-Vici, C. & Angioni, A., Mar 2009, In : Pediatric Research. 65, 3, p. 347-351 5 p.

Research output: Contribution to journalArticle

Retinal Degeneration

Morini, C., Capozzi, P., Boenzi, S., Rizzo, C., Santorelli, F. M. & Dionisi-Vici, C., Aug 2009, In : Ophthalmology. 116, 8

Research output: Contribution to journalArticle

2008

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, M. C., Boenzi, S., Danhaive, O., Barbot, C., Sequeira, S., Locatelli, M., Santorelli, F. M., Uziel, G., Vilarinho, L. & 1 others, Dionisi-Vici, C., Apr 2008, In : Molecular Genetics and Metabolism. 93, 4, p. 475-480 6 p.

Research output: Contribution to journalArticle

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, M. C., Johnson, D. W. & Dionisi-Vici, C., Dec 2008, In : Clinica Chimica Acta. 398, 1-2, p. 86-89 4 p.

Research output: Contribution to journalArticle

2007

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Leuzzi, V., Di Sabato, M. L., Deodato, F., Rizzo, C., Boenzi, S., Carducci, C., Malaspina, P., Liberanome, C. & Dionisi-Vici, C., Apr 2007, In : Neurology. 68, 16, p. 1320-1321 2 p.

Research output: Contribution to journalArticle

2006

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria

Di Rosa, G., Deodato, F., Loupatty, F. J., Rizzo, C., Carrozzo, R., Santorelli, F. M., Boenzi, S., D'Amico, A., Tozzi, G., Bertini, E., Maiorana, A., Wanders, R. J. A. & Dionisi-Vici, C., Aug 2006, In : Journal of Inherited Metabolic Disease. 29, 4, p. 546-550 5 p.

Research output: Contribution to journalArticle

Methylmalonic propionic aciduria

Deodato, F., Boenzi, S., Santorelli, F. M. & Dionisi-Vici, C., May 15 2006, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 142 C, 2, p. 104-112 9 p.

Research output: Contribution to journalArticle

2005

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., Dec 2005, In : Neuropediatrics. 36, 6, p. 366-372 7 p.

Research output: Contribution to journalArticle

2004
2003

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

Rizzo, C., Boenzi, S., Wanders, R. J. A., Duran, M., Caruso, U. & Dionisi-Vici, C., Jun 1 2003, In : Pediatric Research. 53, 6, p. 1013-1018 6 p.

Research output: Contribution to journalArticle

2002

Successful pregnancy in a woman with mut- Methylmalonic acidaemia

Deodato, F., Rizzo, C., Boenzi, S., Baiocco, F., Sabetta, G. & Dionisi-Vici, C., 2002, In : Journal of Inherited Metabolic Disease. 25, 2, p. 133-134 2 p.

Research output: Contribution to journalArticle