The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys
Lampe, C, Dionisi-Vici, C, Bellettato, C M, Paneghetti, L, van Lingen, C, Bond, S, Brown, C, Finglas, A, Francisco, R, Sestini, S, Heard, J M, Scarpa, M
Published in Orphanet journal of rare diseases (03.12.2020)
Published in Orphanet journal of rare diseases (03.12.2020)
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MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG
Palmigiano, A., Bua, R. O., Barone, R., Rymen, D., Régal, L., Deconinck, N., Dionisi‐Vici, C., Fung, C.‐W., Garozzo, D., Jaeken, J., Sturiale, L.
Published in Journal of mass spectrometry. (01.06.2017)
Published in Journal of mass spectrometry. (01.06.2017)
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A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E.M., Dionisi‐Vici, C., Christodoulou, J., Bertini, E., Carrozzo, R.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Adherence to diet and quality of life in patients with phenylketonuria
Cotugno, G, Nicolò, R, Cappelletti, S, Goffredo, BM, Dionisi Vici, C, Di Ciommo, V
Published in Acta Paediatrica (01.08.2011)
Published in Acta Paediatrica (01.08.2011)
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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.
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation
Jaeken, J., Vleugels, W., Régal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
Carrozzo, R, Tessa, A, Vázquez-Memije, M E, Piemonte, F, Patrono, C, Malandrini, A, Dionisi-Vici, C, Vilarinho, L, Villanova, M, Schägger, H, Federico, A, Bertini, E, Santorelli, F M
Published in Neurology (13.03.2001)
Published in Neurology (13.03.2001)
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Mutation analysis in 16 patients with mtDNA depletion
Carrozzo, R., Bornstein, B., Lucioli, S., Campos, Y., de la Pena, P., Petit, N., Dionisi-Vici, C., Vilarinho, L., Rizza, T., Bertini, E., Garesse, R., Santorelli, F.M., Arenas, J.
Published in Human mutation (01.04.2003)
Published in Human mutation (01.04.2003)
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Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease Working Group
Di Giorgio, A., Bartolini, E., Calvo, P.L., Cananzi, M., Cirillo, F., Della Corte, C., Dionisi-Vici, C., Indolfi, G., Iorio, R., Maggiore, G., Mandato, C., Nebbia, G., Nicastro, E., Pinon, M., Ranucci, G., Sciveres, M., Vajro, P., D'Antiga, L.
Published in Digestive and liver disease (01.05.2021)
Published in Digestive and liver disease (01.05.2021)
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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
Published in Acta Paediatrica (01.04.2004)
Published in Acta Paediatrica (01.04.2004)
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HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation
Fecarotta, S., Parenti, G., Vajro, P., Zuppaldi, A., Casa, R. Della, Carbone, M. T., Correra, A., Torre, G., Riva, S., Dionisi‐Vici, C., Santorelli, F. M., Andria, G.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
Molema, Femke, Gleich, Florian, Burgard, Peter, Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C.
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
Melis, D., Parenti, G., Gatti, R., Casa, R. Della, Parini, R., Riva, E., Burlina, A. B., Vici, C. Dionisi, Di Rocco, M., Furlan, F., Torcoletti, M., Papadia, F., Donati, A., Benigno, V., Andria, G.
Published in Clinical endocrinology (Oxford) (01.07.2005)
Published in Clinical endocrinology (Oxford) (01.07.2005)
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Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
Francalanci, P, Eymard-Pierre, E, Dionisi-Vici, C, Boldrini, R, Piemonte, F, Virgili, R, Fariello, G, Bosman, C, Santorelli, F M, Boespflug-Tanguy, O, Bertini, E
Published in Neurology (24.07.2001)
Published in Neurology (24.07.2001)
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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
Piano Mortari, E., Folgiero, V., Marcellini, V., Romania, P., Bellacchio, E., D'Alicandro, V., Bocci, C., Carrozzo, R., Martinelli, D., Petrini, S., Axiotis, E., Farroni, C., Locatelli, F., Schara, U., Pilz, D.T., Jungbluth, H., Dionisi-Vici, C., Carsetti, R.
Published in Autophagy (02.01.2018)
Published in Autophagy (02.01.2018)
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