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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

‘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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

Newborn screening for homocystinurias: Recent recommendations versus current practice

Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi-Vici, Carlo, Gleich, Florian, Morri

Journal:

Journal of Inherited Metabolic Disease

Année:

2019

Fichier:

PDF, 1.65 MB

2019

35

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 1017 KB

english, 2019

36

Safety of vaccines administration in hereditary fructose intolerance

Maiorana, Arianna, Sabia, Antonella, Corsetti, Tiziana, Dionisi-Vici, Carlo

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 838 KB

2020

37

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.

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 1.78 MB

2020

38

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

Patrono, C., Rizzo, C., Tessa, A., Giannotti, A., Borrelli, P., Carrozzo, R., Piemonte, F., Bertini, E., Dionisi-Vici, C., Santorelli, F.M.

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 150 KB

english, 2000

39

X-linked congenital ataxia: A clinical and genetic study

Bertini, Enrico, des Portes, Vincent, Zanni, Ginevra, Santorelli, Filippo, Dionisi-Vici, Carlo, Vicari, Stefano, Fariello, Giuseppe, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 145 KB

english, 2000

40

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

Aldo Giannotti, Alessandra Tessa, Clarice Patrono, Lucia De Florio, Margherita Velardo, Carlo Dionisi-Vici, Enrico Bertini, Filippo M. Santorelli

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 12 KB

english, 2000

41

Jeune syndrome associated with cystinuria: Report of two sisters

S. Rinaldi, C. Dionisi-Vici, B. Goffredo, B. Dallapiccola, G. Rizzoni

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 247 KB

english, 1990

42

Response to Dr. Clayton-Smith: Jeune syndrome and cystinuria

Bruno Dallapiccola, Carlo Dionisi-Vici, Bianca Goffredo, Stefano Rinaldi, Gianfranco Rizzoni

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 96 KB

english, 1991

43

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections

Enrico Bertini, Raffaella Cusmai, Genevieve de Saint Basile, Françoise Le Deist, Matteo Di Capua, Di Roberto Gaggero, Carlo Dionisi-Vici, Clemente Santillo, Maurizio Caniglia

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 632 KB

english, 1992

44

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly

Maurizio Genuardi, Carlo Dionisi-Vici, Gaetano Sabetta, Massimo Mignozzi, Gianfranco Rizzoni, Giovanna Cotugno, Maria Enrica Martini Neri

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 499 KB

english, 1993

45

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Andrea Finocchi, Giulia Angelino, Nicoletta Cantarutti, Maurizio Corbari, Elsa Bevivino, Simona Cascioli, Francesco Randisi, Enrico Bertini, Carlo Dionisi-Vici

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 139 KB

english, 2012

46

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Sheila Unger, Ekkehart Lausch, Franco Stanzial, Gabriele Gillessen-Kaesbach, Irina Stefanova, Cristina Maria Di Stefano, Enrico Bertini, Carlo Dionisi-Vici, Bernd Nilius, Bernhard Zabel, Andrea Supert

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 350 KB

english, 2011

47

Methylmalonic and propionic aciduria

Federica Deodato, Sara Boenzi, Filippo M. Santorelli, Carlo Dionisi-Vici

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 227 KB

english, 2006

48

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia

Georg F. Hoffmann, Birgit Assmann, Christa Bräutigam, Carlo Dionisi-Vici, Martin Häussler, Johannes B. C. De Klerk, Markus Naumann, Gerry C. H. Steenbergen-Spanjers, Hans-Michael Strassburg, Ron A. We

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 534 KB

english, 2003

49

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency

Dr. C. Dionisi-Vici, W. Ruitenbeek, G. Fariello, H. Bentlage, R. J. A. Wanders, H. Schägger, C. Bosman, C. Piantadosi, G. Sabetta, E. Bertini

Journal:

Annals of Neurology

Année:

1997

Langue:

english

Fichier:

PDF, 550 KB

english, 1997

50

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines

Merel S. Ebberink, Petra A.W. Mooyer, Janet Koster, Conny J.M. Dekker, François J.M. Eyskens, Carlo Dionisi-Vici, Peter T. Clayton, Peter G. Barth, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 489 KB

english, 2009