1984 …2019

Research output per year

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Research Output

2019

Analysis of LPI-causing mutations on y+LAT1 function and localization

Rotoli, B. M., Barilli, A., Ingoglia, F., Visigalli, R., Bianchi, M. G., Ferrari, F., Martinelli, D., Dionisi-Vici, C. & Dall'Asta, V., Mar 4 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 63

Research output: Contribution to journalArticle

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Baruteau, J., Diez-Fernandez, C., Lerner, S., Ranucci, G., Gissen, P., Dionisi-Vici, C., Nagamani, S., Erez, A. & Häberle, J., Feb 5 2019, In : Journal of Inherited Metabolic Disease. p. 1-15 15 p.

Research output: Contribution to journalArticle

Chronic Liver Involvement in Urea Cycle Disorders

Ranucci, G., Rigoldi, M., Cotugno, G., Bernabei, S., Liguori, A., Gasperini, S., Goffredo, B., Martinelli, D., Monti, L., Francalanci, P., Candusso, M., Parini, R. & Dionisi-Vici, C., Jul 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F. & 31 others, Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Early neurodevelopmental characterization in children with cobalamin C/defect

Ricci, D., Martinelli, D., Ferrantini, G., Lucibello, S., Gambardella, ML., Olivieri, G., Chieffo, D., Battaglia, D., Diodato, D., Iarossi, G., Donati, A. M., Dionisi-Vici, C. & Battini, R., Jan 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

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

Additional individual contributors from E-IMD, Nov 1 2019, In : Journal of Inherited Metabolic Disease. 42, 6, p. 1162-1175 14 p.

Research output: Contribution to journalArticle

Open Access

Newborn screening for homocystinurias: Recent recommendations versus current practice

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 128-139 12 p.

Research output: Contribution to journalArticle

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., Dec 9 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

Magini, P., Marco-Marin, C., Escamilla-Honrubia, J. M., Martinelli, D., Dionisi-Vici, C., Faravelli, F., Forzano, F., Seri, M., Rubio, V. & Panza, E., Aug 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1533-1540 8 p.

Research output: Contribution to journalArticle

Phase I/II Trial of Liver Derived Mesenchymal Stem Cells in Pediatric Liver Based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-Derived Progenitor Cells (HepaStem®) in Urea Cycle Disorders and Crigler-Najjar Syndrome patients

Smets, F., Dobbelaere, D., McKiernan, P., Dionisi-Vici, C., Broué, P., Jacquemin, E., Lopes, A. I., Gonçalves, I., Mandel, H., Pawlowska, J., Kamińska, D., Shteyer, E., Torre, G., Shapiro, R., Eyskens, F., Clapuyt, P., Gissen, P., Pariente, D., Grunewald, S., Yudkoff, M. & 6 others, Binda, M. M., Najimi, M., Belmonte, N., Vos, B. D., Thonnard, J. & Sokal, E., Feb 18 2019, In : Transplantation.

Research output: Contribution to journalArticle

Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision

Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., Apr 14 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalReview article

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., Hinman, A., Malone, S. A., Bruegger, J. J., Wang, L., Kim, V., Shrader, W. D., Hoff, K. G., Latham, J. C., Ashley, E. A., Wheeler, M. T., Bertini, E., Carrozzo, R., Martinelli, D., Dionisi-Vici, C. & 9 others, Chapman, K. A., Enns, G. M., Gahl, W., Wolfe, L., Saneto, R. P., Johnson, S. C., Trimmer, J. K., Klein, M. B. & Holst, C. R., Mar 28 2019, In : PLoS One. 14, 3, p. e0214250

Research output: Contribution to journalArticle

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

Additional individual contributors of the UCDC and the E-IMD consortium, Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 93-106 14 p.

Research output: Contribution to journalArticle

2018

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy

Diodato, D., Olivieri, G., Pro, S., Maiorani, D., Martinelli, D., Deodato, F., Taurisano, R., Di Capua, M. & Dionisi-Vici, C., Sep 18 2018, In : Neurology. 91, 12, p. 565-567 3 p.

Research output: Contribution to journalArticle

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins

Torraco, A., Stehling, O., Stümpfig, C., Rösser, R., De Rasmo, D., Fiermonte, G., Verrigni, D., Rizza, T., Vozza, A., Di Nottia, M., Diodato, D., Martinelli, D., Piemonte, F., Dionisi-Vici, C., Bertini, E., Lill, R. & Carrozzo, R., Aug 1 2018, In : Human Molecular Genetics. p. 2739–2754 16 p.

Research output: Contribution to journalArticle

Newborn screening for homocystinurias: recent recommendations versus current practice

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Jun 15 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism

Ponzi, E., Maiorana, A., Lepri, F. R., Mucciolo, M., Semeraro, M., Taurisano, R., Olivieri, G., Novelli, A. & Dionisi-Vici, C., Nov 2018, In : Journal of Pediatrics. 202, p. 272-278.e4 7 p.

Research output: Contribution to journalArticle

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Wasserstein, M., Dionisi-Vici, C., Giugliani, R., Hwu, W-L., Lidove, O., Lukacs, Z., Mengel, E., Mistry, P. K., Schuchman, E. H. & McGovern, M., Nov 29 2018, In : Molecular Genetics and Metabolism. 8 p.

Research output: Contribution to journalReview article

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

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases

Additional individual contributors of the UCDC and the E-IMD consortium, Jul 4 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M. K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C. S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., Taurisano, R. & 6 others, Alhaddad, B., Kovacs-Nagy, R., Haack, T. B., Dionisi-Vici, C., Pronicka, E. & Wortmann, S. B., Aug 1 2017, In : Clinica Chimica Acta. 471, p. 95-100 6 p.

Research output: Contribution to journalArticle

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

McGovern, M. M., Dionisi-Vici, C., Giugliani, R., Hwu, P., Lidove, O., Lukacs, Z., Eugen Mengel, K., Mistry, P. K., Schuchman, E. H. & Wasserstein, M. P., Sep 1 2017, In : Genetics in Medicine. 19, 9, p. 967-974 8 p.

Research output: Contribution to journalArticle

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

Maiorana, A. & Dionisi-Vici, C., Jul 1 2017, In : Journal of Inherited Metabolic Disease. 40, 4, p. 531-542 12 p.

Research output: Contribution to journalArticle

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., Jun 1 2017, In : Journal of Mass Spectrometry. 52, 6, p. 372-377 6 p.

Research output: Contribution to journalArticle

NTBC and correction of renal dysfunction

Maiorana, A. & Dionisi-Vici, C., Jan 1 2017, Advances in Experimental Medicine and Biology. Springer New York LLC, Vol. 959. p. 93-100 8 p. (Advances in Experimental Medicine and Biology; vol. 959).

Research output: Chapter in Book/Report/Conference proceedingChapter

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Patterson, M. C., Clayton, P., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi-Vici, C., Klünemann, H-H., Latour, P., Lourenço, C. M., Ory, D. S., Parker, A., Pocoví, M., Strupp, M., Vanier, M. T., Walterfang, M. & Marquardt, T., Dec 2017, In : Neurology: Clinical Practice. 7, 6, p. 499-511 13 p.

Research output: Contribution to journalReview article

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Hendriksz, C. J., Anheim, M., Bauer, P., Bonnot, O., Chakrapani, A., Corvol, J. C., de Koning, T. J., Degtyareva, A., Dionisi-Vici, C., Doss, S., Duning, T., Giunti, P., Iodice, R., Johnston, T., Kelly, D., Klünemann, H. H., Lorenzl, S., Padovani, A., Pocovi, M., Synofzik, M. & 7 others, Terblanche, A., Then Bergh, F., Topçu, M., Tranchant, C., Walterfang, M., Velten, C. & Kolb, S. A., May 4 2017, In : Current Medical Research and Opinion. 33, 5, p. 877-890 14 p.

Research output: Contribution to journalArticle

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression

Deodato, F., Procopio, E., Rampazzo, A., Taurisano, R., Donati, M. A., Dionisi-Vici, C., Caciotti, A., Morrone, A. & Scarpa, M., Oct 1 2017, In : Metabolic Brain Disease. 32, 5, p. 1529-1536 8 p.

Research output: Contribution to journalArticle

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., Dec 1 2017, In : Autophagy. p. 1-16 16 p.

Research output: Contribution to journalArticle

2016

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Staufner, C., Lindner, M., Dionisi-Vici, C., Freisinger, P., Dobbelaere, D., Douillard, C., Makhseed, N., Straub, B. K., Kahrizi, K., Ballhausen, D., la Marca, G., Kölker, S., Haas, D., Hoffmann, G. F., Grünert, S. C. & Blom, H. J., Mar 1 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 273-283 11 p.

Research output: Contribution to journalArticle

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Teles, E. L., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R., Kölker, S. & 1 others, Additional Individual Contributors Of The E-Imd Consortium, I. C. O. T. E-I. C., Apr 22 2016, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-12 12 p.

Research output: Contribution to journalArticle

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. & 2 others, Bertini, E. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

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. & 2 others, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Huemer, M., Mulder-Bleile, R., Burda, P., Froese, D. S., Suormala, T., Zeev, B. B., Chinnery, P. F., Dionisi-Vici, C., Dobbelaere, D., Gökcay, G., Demirkol, M., Häberle, J., Lossos, A., Mengel, E., Morris, A. A., Niezen-Koning, K. E., Plecko, B., Parini, R., Rokicki, D., Schiff, M. & 15 others, Schimmel, M., Sewell, A. C., Sperl, W., Spiekerkoetter, U., Steinmann, B., Taddeucci, G., Trejo-Gabriel-Galán, J. M., Trefz, F., Tsuji, M., Vilaseca, M. A., von Kleist-Retzow, J. C., Walker, V., Zeman, J., Baumgartner, M. R. & Fowler, B., Jan 1 2016, In : Journal of Inherited Metabolic Disease. 39, 1, p. 115-124 10 p.

Research output: Contribution to journalArticle

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

Barba, C., Darra, F., Cusmai, R., Procopio, E., Dionisi Vici, C., Keldermans, L., Vuillaumier-Barrot, S., Lefeber, D. J., Guerrini, R., Parrini, E., Ashikov, A., Bordugo, A., Cantalupo, G., Casara, G., Bernardina, B. D., Falchi, M., Ferri, L., Martinelli, D., Morrone, A., Race, V. & 2 others, Rosati, A. & Souche, E., Oct 1 2016, In : Developmental Medicine and Child Neurology. 58, 10, p. 1085-1091 7 p.

Research output: Contribution to journalArticle

Deferasirox-induced serious adverse reaction in a pediatric patient: Pharmacokinetic and pharmacogenetic analysis

Marano, M., Bottaro, G., Goffredo, B., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi-Vici, C., Clementi, E. & Falvella, F. S., Feb 1 2016, In : European Journal of Clinical Pharmacology. 72, 2, p. 247-248 2 p.

Research output: Contribution to journalArticle

Deferasirox-induced serious adverse reaction in a pediatric patient: Pharmacokinetic and pharmacogenetic analysis

Marano, M., Bottaro, G., Goffredo, B. M., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi Vici, C., Clementi, E. G. I. & Falvella, F. S., Feb 1 2016, In : European Journal of Clinical Pharmacology. 72, 2, p. 247-248 2 p.

Research output: Contribution to journalArticle

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

Polo, G., Burlina, A. P., Kolamunnage, T. B., Zampieri, M., Dionisi-Vici, C., Strisciuglio, P., Zaninotto, M., Plebani, M. & Burlina, A. B., Aug 17 2016, In : Clinical Chemistry and Laboratory Medicine. 55, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle