Search Results - "RIZZO, Cristiano"

Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype by Vernocchi, Pamela, Del Chierico, Federica, Russo, Alessandra, Majo, Fabio, Rossitto, Martina, Valerio, Mariacristina, Casadei, Luca, La Storia, Antonietta, De Filippis, Francesca, Rizzo, Cristiano, Manetti, Cesare, Paci, Paola, Ercolini, Danilo, Marini, Federico, Fiscarelli, Ersilia Vita, Dallapiccola, Bruno, Lucidi, Vincenzina, Miccheli, Alfredo, Putignani, Lorenza

“…Cystic fibrosis (CF) is a disorder affecting the respiratory, digestive, reproductive systems and sweat glands. This lethal hereditary disease has known or…”
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Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles by Sidorina, Anna, Catesini, Giulio, Sacchetti, Elisa, Rizzo, Cristiano, Dionisi-Vici, Carlo

“…Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also…”
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A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders by Semeraro, Michela, Sacchetti, Elisa, Deodato, Federica, Coşkun, Turgay, Lay, Incilay, Catesini, Giulio, Olivieri, Giorgia, Rizzo, Cristiano, Boenzi, Sara, Dionisi-Vici, Carlo

“…Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The…”
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Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study by Cocciadiferro, Dario, Mazza, Tommaso, Vecchio, Davide, Biagini, Tommaso, Petrizzelli, Francesco, Agolini, Emanuele, Villani, Andrea, Minervino, Daniele, Martinelli, Diego, Rizzo, Cristiano, Boenzi, Sara, Panfili, Filippo Maria, Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Bartuli, Andrea, Novelli, Antonio

“…Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay,…”
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Organic acidurias in Egyptian children: The urge for high‐risk screening by Mehaney, Dina A., Seliem, Zeinab S., Selim, Laila A., Khalil, Mona S., Abou‐Youssef, Hazem S., Elsayed, Elham M., Abdou, Doaa M., Rizzo, Cristiano, Dioniasi‐Vici, Carlo, Abdelazim, Aya M., Elkady, Sherihan H.

“…Background Organic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious…”
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Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis by Maiorana, Arianna, M.D., Ph.D, Vergine, Gianluca, M.D, Coletti, Valentina, M.D, Luciani, Matteo, M.D, Rizzo, Cristiano, M.D, Emma, Francesco, M.D, Dionisi-Vici, Carlo, M.D

“…Abstract Objective Refeeding syndrome can occur in several contexts of relative malnutrition in which an overaggressive nutritional support is started. The…”
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Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S] by Boenzi, Sara, Deodato, Federica, Taurisano, Roberta, Goffredo, Bianca Maria, Rizzo, Cristiano, Dionisi-Vici, Carlo

“…Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress…”
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ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series by Mohn, Angelika, Polidori, Nella, Aiello, Chiara, Rizzo, Cristiano, Giannini, Cosimo, Chiarelli, Francesco, Cappa, Marco

“…Summary Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene…”
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A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry by Semeraro, Michela, Rizzo, Cristiano, Boenzi, Sara, Cappa, Marco, Bertini, Enrico, Antonetti, Giacomo, Dionisi-Vici, Carlo

“…Peroxisomal disorders (PDs) present with wide phenotypic variability. An appropriate diagnosis requires a complete analysis of peroxisomal metabolites. We…”
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Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry by Rizzo, Cristiano, Boenzi, Sara, Inglese, Rita, la Marca, Giancarlo, Muraca, Maurizio, Martinez, Tegra Barreiro, Johnson, David W., Zelli, Eleonora, Dionisi-Vici, Carlo

“…Methylmalonic aciduria (MMA) is one of the most frequent organic acidurias, a class of diseases caused by enzymatic defects mainly involved in the catabolism…”
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Creatine metabolism in urea cycle defects by Boenzi, Sara, Pastore, Anna, Martinelli, Diego, Goffredo, Bianca Maria, Boiani, Arianna, Rizzo, Cristiano, Dionisi-Vici, Carlo

“…Creatine (Cr) and phosphocreatine play an essential role in energy storage and transmission. Maintenance of creatine pool is provided by the diet and by de…”
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Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey by Dionisi-Vici, Carlo, Rizzo, Cristiano, Burlina, Alberto B., Caruso, Ubaldo, Sabetta, Gaetano, Uziel, Graziella, Abeni, Damiano

“…Objective: To estimate at the national level the overall and diseasespecific incidence of inborn errors of metabolism not mass screened at birth. Study design:…”
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Off-line removal of TMS-induced artifacts on human electroencephalography by Kalman filter by Morbidi, Fabio, Garulli, Andrea, Prattichizzo, Domenico, Rizzo, Cristiano, Manganotti, Paolo, Rossi, Simone

“…In this paper we present an off-line Kalman filter approach to remove transcranial magnetic stimulation (TMS)-induced artifacts from electroencephalographic…”
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Retinal Degeneration by Morini, Chiara, MD, Capozzi, Paolo, MD, Boenzi, Sara, MS, Rizzo, Cristiano, MS, Santorelli, Filippo Maria, MD, Dionisi-Vici, Carlo, MD

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Peroxisomal acyl-CoA-oxidase deficiency: Two new cases by Carrozzo, Rosalba, Bellini, Carlo, Lucioli, Simona, Deodato, Federica, Cassandrini, Denise, Cassanello, Michela, Caruso, Ubaldo, Rizzo, Cristiano, Rizza, Teresa, Napolitano, Matteo L., Wanders, Ronald J.A., Jakobs, Cornelis, Bruno, Claudio, Santorelli, Filippo M., Dionisi-Vici, Carlo, Bonioli, Eugenio

“…We report on two new patients with straight‐chain acyl‐coenzyme A oxidase deficiency. Early onset hypotonia, seizures and psychomotor delay were observed in…”
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Nutritional Counseling and Mediterranean Diet in Adrenoleukodystrophy: A Real-Life Experience by Spreghini, Maria Rita, Gianni, Nicoletta, Todisco, Tommaso, Rizzo, Cristiano, Cappa, Marco, Manco, Melania

“…: Adrenoleukodystrophy (X-ALD) is a metabolic disorder caused by dysfunctional peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFAs). A…”
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Differential effects of extracellular vesicles secreted by mesenchymal stem cells from different sources on glioblastoma cells by Del Fattore, Andrea, Luciano, Rosa, Saracino, Rossana, Battafarano, Giulia, Rizzo, Cristiano, Pascucci, Luisa, Alessandri, Giulio, Pessina, Augusto, Perrotta, Antonio, Fierabracci, Alessandra, Muraca, Maurizio

“…Malignant glial tumors, including glioblastoma multiforme, account for 15 - 20% of pediatric CNS malignancies. They are most resistant to therapy and are…”
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Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease by Dionisi-Vici, Carlo, Diodato, Daria, Torre, Giuliano, Picca, Stefano, Pariante, Rosanna, Giuseppe Picardo, Sergio, Di Meo, Ivano, Rizzo, Cristiano, Tiranti, Valeria, Zeviani, Massimo, De Ville De Goyet, Jean

“…Ethylmalonic encephalopathy is a fatal, rapidly progressive mitochondrial disorder caused by ETHE1 mutations, whose peculiar clinical and biochemical features…”
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Vitamin D status in Hashimoto’s thyroiditis and its association with vitamin D receptor genetic variants by Hanna, Hany William Z., Rizzo, Cristiano, Abdel Halim, Radwa Marawan, El Haddad, Hemmat Elewa, Salam, Randa, El-Sayed Abou-Youssef, Hazem

“…•VDR gene FokI AA (rs2228570) is associated with Hashimoto's thyroiditis.•VDR gene FokI AA (rs2228570) variant could have normal levels of 25−OH-vitamin…”
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Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia by Maines, Evelina, Catesini, Giulio, Boenzi, Sara, Mosca, Antonella, Candusso, Manila, Dello Strologo, Luca, Martinelli, Diego, Maiorana, Arianna, Liguori, Alessandra, Olivieri, Giorgia, Taurisano, Roberta, Piemonte, Fiorella, Rizzo, Cristiano, Spada, Marco, Dionisi‐Vici, Carlo

“…Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second‐tier test in newborn screening, but its…”
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