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1

Seaside tourism and eco-labels: The economic impact of Blue Flags

Capacci, Sara, Scorcu, Antonello E., Vici, Laura

Journal:

Tourism Management

Année:

2015

Langue:

english

Fichier:

PDF, 751 KB

english, 2015

2

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, Eleonora Paradies, Matthias R. Baumgartner, Yin-Hsiu Chien, Carmela Loguercio, Helene Ogier de Baulny, Marie-Cecile Nassogne, Manuel Schiff, F

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 306 KB

english, 2009

3

Locating contact areas and estimating contact forces between the “Mona Lisa” wooden panel and its frame

Goli, Giacomo, Dionisi-Vici, Paolo, Uzielli, Luca

Journal:

Journal of Cultural Heritage

Année:

2014

Langue:

english

Fichier:

PDF, 3.32 MB

english, 2014

4

Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain

Martinelli, D., Bernardi, B., Napolitano, A., Colafati, G. S., Dionisi-Vici, C.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 525 KB

english, 2016

5

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

S. Salvi, C. Dionisi-Vici, E. Bertini, M. Verardo, F.M. Santorelli

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 122 KB

english, 2001

6

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ||

Blau, Nenad, Duran, Marinus, Gibson, K Michael, Dionisi Vici, Carlo

Année:

2014

Langue:

english

Fichier:

PDF, 16.03 MB

english, 2014

7

Long-term hygromechanical monitoring of Wooden Objects of Art (WOA): A tool for preventive conservation

Allegretti, Ottaviano, De Vincenzi, Matteo, Uzielli, Luca, Dionisi-Vici, Paolo

Journal:

Journal of Cultural Heritage

Année:

2013

Langue:

english

Fichier:

PDF, 921 KB

english, 2013

8

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burli

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 2.62 MB

english, 2014

9

Vici syndrome: a review

Byrne, Susan, Dionisi-Vici, Carlo, Smith, Luke, Gautel, Mathias, Jungbluth, Heinz

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 848 KB

english, 2016

10

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

Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Leão Teles, Elisa, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelae

Journal:

Journal of Inherited Metabolic Disease

Année:

2018

Fichier:

PDF, 301 KB

2018

11

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency

Deodato, Federica, Boenzi, Sara, Taurisano, Roberta, Semeraro, Michela, Sacchetti, Elisa, Carrozzo, Rosalba, Dionisi-Vici, Carlo

Journal:

Clinica Chimica Acta

Année:

2018

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2018

12

Advances in tourism economics: The sixth IATE (International Association for Tourism Economics) Conference

Figini, Paolo, Sahli, Mondher, Vici, Laura

Journal:

Tourism Economics

Année:

2018

Langue:

english

Fichier:

PDF, 88 KB

english, 2018

13

AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement

Nascimbeni, Fabio, Dionisi Vici, Carlo, Vespasiani Gentilucci, Umberto, Angelico, Francesco, Nobili, Valerio, Petta, Salvatore, Valenti, Luca

Journal:

Digestive and Liver Disease

Année:

2020

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2020

14

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children

Galeotti, Angela, De Rosa, Sara, Uomo, Roberto, Dionisi-Vici, Carlo, Deodato, Federica, Taurisano, Roberta, Olivieri, Giorgia, Festa, Paola

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 2.42 MB

2020

15

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

Carlo Dionisi Vici, Gaetano Sabetta, Manuela Gambarara, Federico Vigevano, Enrico Bertini, Renata Boldrini, Saverio Giuseppe Parisi, Isabella Quinti, Fernando Aiuti, Massimo Fiorilli, John M. Optiz, J

Journal:

American Journal of Medical Genetics Part A

Année:

1988

Langue:

english

Fichier:

PDF, 557 KB

english, 1988

16

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Vito Iacobazzi, Federica Invernizzi, Silvia Baratta, Roser Pons, Wendy Chung, Barbara Garavaglia, Carlo Dionisi-Vici, Antonia Ribes, Rossella Parini, Maria Dolores Huertas, Susana Roldan, Graziantonio

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 224 KB

english, 2004

17

Mechanical response of wooden boards subjected to humidity step variations: climatic chamber measurements and fitted mathematical models

P. Dionisi Vici, P. Mazzanti, L. Uzielli

Journal:

Journal of Cultural Heritage

Année:

2006

Langue:

english

Fichier:

PDF, 886 KB

english, 2006

18

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

S. Fecarotta, G. Parenti, P. Vajro, A. Zuppaldi, R. Della Casa, M. T. Carbone, A. Correra, G. Torre, S. Riva, C. Dionisi-Vici, F. M. Santorelli, G. Andria

Journal:

Journal of Inherited Metabolic Disease

Année:

2006

Langue:

english

Fichier:

PDF, 187 KB

english, 2006

19

‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry

Carlo Dionisi-Vici, Federica Deodato, Wulf Röschinger, William Rhead, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Année:

2006

Langue:

english

Fichier:

PDF, 395 KB

english, 2006

20

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

C. Dionisi-Vici, S. Seneca, M. Zeviani, G. Fariello, M. Rimoldi, E. Bertini, L. De Meirleir

Journal:

Journal of Inherited Metabolic Disease

Année:

1998

Langue:

english

Fichier:

PDF, 170 KB

english, 1998

21

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

C. Patrono, C. Dionisi-Vici, A. Giannotti, B. Bembi, M.C. Digilio, C. Rizzo, C. Purificato, C. Martini, R. Pierini, F.M. Santorelli

Journal:

Molecular and Cellular Probes

Année:

2002

Langue:

english

Fichier:

PDF, 120 KB

english, 2002

22

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, Leo A.J. Kluijtmans, Frodi Joensen, René Santer, Carlo Dionisi-Vici, Ron A. Wevers

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 318 KB

english, 2009

23

The clinical picture of early-onset cobalamin C defect (methylmalonic aciduria and homocystinuria)

Frederica Deodato, Sara Boenzi, Cristiano Rizzo, Carlo Dionisi-Vici

Journal:

Paediatrics and Child Health

Année:

2008

Langue:

english

Fichier:

PDF, 106 KB

english, 2008

24

The Deformometric Kit: A method and an apparatus for monitoring the deformation of wooden panels

Luca Uzielli, Linda Cocchi, Paola Mazzanti, Marco Togni, Delphine Jullien, Paolo Dionisi-Vici

Journal:

Journal of Cultural Heritage

Année:

2012

Langue:

english

Fichier:

PDF, 990 KB

english, 2012

25

Mitochondrial DNA depletion syndromes: an update

Federica Deodato, Simona Lucioli, Cristiano Rizzo, Maria Chiara Meschini, Filippo M. Santorelli, Enrico Bertini, Carlo Dionisi-Vici, Rosalba Carrozzo

Journal:

Paediatrics and Child Health

Année:

2009

Langue:

english

Fichier:

PDF, 221 KB

english, 2009

26

Recommendations for the management of tyrosinaemia type 1

Corinne de Laet, Carlo Dionisi-Vici, James V Leonard…

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 388 KB

english, 2013

27

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Cullup, Thomas, Kho, Ay Lin, Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A, Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan,

Journal:

Nature Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2012

28

Screening of filamentous fungi for lipase production: Hypocrea pseudokoningii a new producer with a high biotechnological potential

Pereira, Marita Gimenez, Vici, Ana Claudia, Facchini, Fernanda Dell Antonio, Tristão, Alan Padua, Cursino-Santos, Jeny Rachid, Sanches, Pablo Rodrigo, Jorge, João Atílio, Polizeli, Maria de Lourdes Te

Journal:

Biocatalysis and Biotransformation

Année:

2014

Langue:

english

Fichier:

PDF, 375 KB

english, 2014

29

Immobilized lipase from Hypocrea pseudokoningii on hydrophobic and ionic supports: Determination of thermal and organic solvent stabilities for applications in the oleochemical industry

Pereira, Marita Gimenez, Facchini, Fernanda Dell Antonio, Filó, Luiz Estevam Cavenage, Polizeli, Aline Moraes, Vici, Ana Cláudia, Jorge, João Atílio, Fernandez-Lorente, Glória, Pessela, Benevides Cost

Journal:

Process Biochemistry

Année:

2015

Langue:

english

Fichier:

PDF, 930 KB

english, 2015

30

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 480 KB

english, 2015

31

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Je

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 693 KB

english, 2015

32

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2015

33

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases || Disorders of Leucine, Isoleucine, and Valine Metabolism

Blau, Nenad, Duran, Marinus, Gibson, K Michael, Dionisi Vici, Carlo

Année:

2014

Langue:

english

Fichier:

PDF, 483 KB

english, 2014

34

Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage

Pastore, Anna, Alisi, Anna, di Giovamberardino, Gianna, Crudele, Annalisa, Ceccarelli, Sara, Panera, Nadia, Dionisi-Vici, Carlo, Nobili, Valerio

Journal:

International Journal of Molecular Sciences

Année:

2014

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2014

35

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

Petruzzella, V., Di Giacinto, G., Scacco, S., Piemonte, F., Torraco, A., Carrozzo, R., Vergari, R., Dionisi-Vici, C., Longo, D., Tessa, A., Papa, S., Bertini, E.

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 221 KB

english, 2003

36

Effect of Filgrastim on Serum Lactate Dehydrogenase and Alkaline Phosphatase Values in Early Breast Cancer Patients

Papaldo, Paola, Di Cosimo, Serena, Ferretti, Gianluigi, Vici, Patrizia, Marolla, Paolo, Carlini, Paolo, Fabi, Alessandra, Cognetti, Francesco

Journal:

Cancer Investigation

Année:

2004

Langue:

english

Fichier:

PDF, 95 KB

english, 2004

37

[IEEE 2015 IEEE Sensors Applications Symposium (SAS) - Zadar (2015.4.13-2015.4.15)] 2015 IEEE Sensors Applications Symposium (SAS) - b+WSN: Smart beehive for agriculture, environmental, and honey bee health monitoring — Preliminary results and analysis

Edwards Murphy, Fiona, Magno, Michele, Whelan, Padraig, Vici, Emanuel Popo

Année:

2015

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2015

38

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Carrozzo, R., Tessa, A., Vazquez-Memije, M.E., Piemonte, F., Patrono, C., Malandrini, A., Dionisi-Vici, C., Vilarinho, L., Villanova, M., Schagger, H., Federico, A., Bertini, E., Santorelli, F.M.

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2001

39

Clinical utility gene card for: Vici Syndrome

Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 197 KB

english, 2014

40

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C.

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 1.67 MB

english, 2001

41

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

S. Kölker, V. Valayannopoulos, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, J. Arnoux, P. Avram, M. R. Baumgartner, J. Blasco-alonso,

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Fichier:

PDF, 87 KB

2015

42

Hyperornithinemia-Hyperammonemia- Homocitrullinuria Syndrome: Low Creatine Excretion and Effect of Citrulline, Arginine, or Ornithine Supplement

Dionisi Vici, C, Bachmann, C, Gambarara, M, Colombo, J P, Sabetta, G

Journal:

Pediatric Research

Année:

1987

Langue:

english

Fichier:

PDF, 435 KB

english, 1987

43

EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohamme

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2016

44

Gluten free diet and nutrient deficiencies: A review

Vici, Giorgia, Belli, Luca, Biondi, Massimiliano, Polzonetti, Valeria

Journal:

Clinical Nutrition

Année:

2016

Langue:

english

Fichier:

PDF, 488 KB

english, 2016

45

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

Maiorana, Arianna, Manganozzi, Lucilla, Barbetti, Fabrizio, Bernabei, Silvia, Gallo, Giorgia, Cusmai, Raffaella, Caviglia, Stefania, Dionisi-Vici, Carlo

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2015

46

Evaluation of diuron tolerance and biotransformation by fungi from a sugarcane plantation sandy-loam soil

Lopes, Bruna Perissini, Egea, Tássia Chiachio, Monteiro, Diego Alves, Vici, Ana Cláudia, Da Silva, Danilo Grunig Humberto, Lisboa, Daniela Correa de Oliveira, de Almeida, Eduardo Alves, Parsons, John

Journal:

Journal of Agricultural and Food Chemistry

Année:

2016

Langue:

english

Fichier:

PDF, 1011 KB

english, 2016

47

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders

Semeraro, Michela, Boenzi, Sara, Carrozzo, Rosalba, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Antonetti, Giacomo, Sacchetti, Elisa, Catesini, Giulio, Rizzo, Cristiano, Dionisi-Vici, Carlo

Journal:

Clinica Chimica Acta

Année:

2018

Langue:

english

Fichier:

PDF, 368 KB

english, 2018

48

Clinical performance and utility of a NNMT-based urine test for bladder cancer

Pozzi, Valentina, Di Ruscio, Giulia, Sartini, Davide, Campagna, Roberto, Seta, Riccardo, Fulvi, Paola, Vici, Alexia, Milanese, Giulio, Brandoni, Gabriele, Galosi, Andrea B., Montironi, Rodolfo, Cecati

Journal:

The International Journal of Biological Markers

Année:

2018

Langue:

english

Fichier:

PDF, 443 KB

english, 2018

49

Non-Pegylated Liposomal Doxorubicin-Cyclophosphamide in Sequential Regimens with Taxanes as Neoadjuvant Chemotherapy in Breast Cancer Patients

Vici, Patrizia, Pizzuti, Laura, Gamucci, Teresa, Sergi, Domenico, Conti, Francesca, Zampa, Germano, Del Medico, Pietro, De Vita, Roy, Pozzi, Marcello, Botti, Claudio, Di Filippo, Simona, Tomao, Federi

Journal:

Journal of Cancer

Année:

2014

Langue:

english

Fichier:

PDF, 333 KB

english, 2014

50

Resin-based materials with chlorhexidine loaded MCM-41: surface characteristics, drug release and anti-biofilm activity

Pietrella, Donatella, Marmottini, Fabio, Padeletti, Giuseppina, Montesperelli, Giampiero, Kaciulis, Saulius, Vici, Emanuela, Cerri, Luciana, Ambrogi, Valeria

Journal:

ACS Biomaterials Science & Engineering

Année:

2018

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2018