The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys von 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.

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MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG von 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.

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When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription von Ferri, L., Dionisi-Vici, C., Taurisano, R., Vaz, F. M., Guerrini, R., Morrone, A.

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A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia von 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.

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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase von 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

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Adherence to diet and quality of life in patients with phenylketonuria von Cotugno, G, Nicolò, R, Cappelletti, S, Goffredo, BM, Dionisi Vici, C, Di Ciommo, V

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Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1 von Maiorana, A., Malamisura, M., Emma, F., Boenzi, S., Di Ciommo, V.M., Dionisi-Vici, C.

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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters von 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

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Too late to say it is too early - How to get children with non-cirrhotic metabolic diseases transplanted at the right time? von Macchiaiolo, M., Bartuli, A., McKiernan, P., Dionisi-Vici, C., de Ville de Goyet, J.

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RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation von Jaeken, J., Vleugels, W., Régal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C.

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Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease Working Group von 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.

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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity von 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.

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The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome von CARROZZO, R, TESSA, A, FEDERICO, A, BERTINI, E, SANTORELLI, F. M, VAZQUEZ-MEMIJE, M. E, PIEMONTE, F, PATRONO, C, MALANDRINI, A, DIONISI-VICI, C, VILARINHO, L, VILLANOVA, M, SCHÄGGER, H

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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 von 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.

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Mutation analysis in 16 patients with mtDNA depletion von 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.

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Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency von Di Rosa, G., Malaspina, P., Blasi, P., Dionisi-Vici, C., Rizzo, C., Tortorella, G., Crutchfield, S. R., Gibson, K. M.

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Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia von Deodato, F, Boenzi, S, Rizzo, C, Abeni, D, Caviglia, S, Picca, S, Bartuli, A, Dionisi-Vici, C

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Deferasirox-induced serious adverse reaction in a pediatric patient: pharmacokinetic and pharmacogenetic analysis von Marano, M., Bottaro, G., Goffredo, B., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi-Vici, C., Clementi, E., Falvella, F. S.

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HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation von 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.

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Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome von SALVI, S, SANTORELLI, F. M, DIONISI-VICI, C, BERTINI, E, BOLDRINI, R, MELI, C, DONATI, A, BURLINA, A. B, RIZZO, C, DI CAPUA, M, FARIELLO, G

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