Works by Dionisi Vici, Carlo

Results: 164

Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?

Published in:

2021

By:

Mambro, Corrado Di;
Tamborrino, Pietro Paolo;
Silvetti, Massimo Stefano;
Yammine, Marie Laure;
Marcolin, Cecilia;
Righi, Daniela;
Baban, Anwar;
Martinelli, Diego;
Vici, Carlo Dionisi;
Drago, Fabrizio;
Di Mambro, Corrado;
Dionisi Vici, Carlo

Publication type:

journal article

Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

Published in:

Liver International, 2025, v. 45, n. 7, p. 1, doi. 10.1111/liv.70146

By:

Peters, Bianca;
Schlieben, Lea Dewi;
Brennenstuhl, Heiko;
Arikan, Cigdem;
Bedoyan, Sarah M.;
Bulut, Fatma Derya;
Crushell, Ellen;
Dionisi‐Vici, Carlo;
Drab, Ada;
Fichtner, Alexander;
Garcia, Aixa Gonzalez;
Fry, Deanna;
Garbade, Sven F.;
Hammann, Nicole;
Hadzic, Nedim;
Hegarty, Robert;
Jørgensen, Marianne Hørby;
Laaß, Martin;
Lainka, Elke;
Leghlam, Lina

Publication type:

Article

AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 55, doi. 10.1111/nyas.12426

By:

Martinelli, Diego;
Dionisi‐Vici, Carlo

Publication type:

Article

Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Published in:

2020

By:

Pasquini, Luca;
Guarnera, Alessia;
Rossi-Espagnet, Maria Camilla;
Napolitano, Antonio;
Martinelli, Diego;
Deodato, Federica;
Diodato, Daria;
Carrozzo, Rosalba;
Dionisi-Vici, Carlo;
Longo, Daniela

Publication type:

Correction Notice

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Published in:

Neuroradiology, 2020, v. 62, n. 10, p. 1315, doi. 10.1007/s00234-020-02501-0

By:

Luca, Pasquini;
Alessia, Guarnera;
Camilla, Rossi-Espagnet Maria;
Antonio, Napolitano;
Diego, Martinelli;
Federica, Deodato;
Daria, Diodato;
Rosalba, Carrozzo;
Carlo, Dionisi-Vici;
Daniela, Longo

Publication type:

Article

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 22, p. 6981, doi. 10.3390/jcm13226981

By:

Castaman, Giancarlo;
Linari, Silvia;
Barbato, Antonio;
Costantino, Niko;
Dionisi-Vici, Carlo;
Menni, Francesca;
Procopio, Elena;
Ramat, Silvia;
Torquati, Fernanda;
Verrecchia, Elena;
Scarpa, Maurizio

Publication type:

Article

Organ donation from patients with a rare disease is often safe: the italian guidelines.

Published in:

Clinical Transplantation, 2022, v. 36, n. 9, p. 1, doi. 10.1111/ctr.14769

By:

Dallapiccola, Bruno;
Moriconi, Stefano;
Rugge, Massimo;
Cardillo, Massimo;
Carcassi, Carlo;
Colledan, Michele;
Strologo, Luca Dello;
Vici, Carlo Dionisi;
Facchin, Paola;
Gridelli, Bruno;
La Rocca, Valentino;
Lombardini, Letizia;
Mazzucato, Monica;
Peritore, Daniela;
Amoroso, Antonio

Publication type:

Article

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Published in:

2021

By:

Semeraro, Michela;
Sacchetti, Elisa;
Deodato, Federica;
Coşkun, Turgay;
Lay, Incilay;
Catesini, Giulio;
Olivieri, Giorgia;
Rizzo, Cristiano;
Boenzi, Sara;
Dionisi-Vici, Carlo

Publication type:

journal article

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

Published in:

2020

By:

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

Publication type:

journal article

Safety of vaccines administration in hereditary fructose intolerance.

Published in:

2020

By:

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

Publication type:

Letter

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

Published in:

2019

By:

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

Publication type:

journal article

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01228-3

By:

Santoro, Lucia;
Pjetraj, Dorina;
Velmishi, Virtut;
Campana, Carmen;
Catassi, Carlo;
Dionisi-Vici, Carlo;
Maiorana, Arianna

Publication type:

Article

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00937-x

By:

Cianci, Paola;
D'Apolito, Valeria;
Moretti, Alex;
Barbagallo, Massimo;
Paci, Sabrina;
Carbone, Maria Teresa;
Lubrano, Riccardo;
Urbino, Antonio;
Dionisi Vici, Carlo;
Memo, Luigi;
Zampino, Giuseppe;
La Marca, Giancarlo;
Villani, Alberto;
Corsello, Giovanni;
Selicorni, Angelo;
the Italian Society For The Study Of Inborn Metabolic Disorders And Newborn Screening (SIMMENS) and Members of Italian Network;
Campania, A.;
Geremia, C.;
Urbino, A.;
Castagno, E.

Publication type:

Article

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

Published in:

International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 8141, doi. 10.3390/ijerph19138141

By:

Semeraro, Daniela;
Verrocchio, Sara;
Di Dalmazi, Giulia;
Rossi, Claudia;
Pieragostino, Damiana;
Cicalini, Ilaria;
Ferrante, Rossella;
Di Michele, Silvia;
Stuppia, Liborio;
Rizzo, Cristiano;
Lepri, Francesca Romana;
Novelli, Antonio;
Dionisi-Vici, Carlo;
De Laurenzi, Vincenzo;
Bucci, Ines

Publication type:

Article

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.

Published in:

International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 1659, doi. 10.3390/ijerph18041659

By:

Cicalini, Ilaria;
Pieragostino, Damiana;
Rizzo, Cristiano;
Verrocchio, Sara;
Semeraro, Daniela;
Zucchelli, Mirco;
Di Michele, Silvia;
Dionisi-Vici, Carlo;
Stuppia, Liborio;
De Laurenzi, Vincenzo;
Bucci, Ines;
Rossi, Claudia;
Chiefari, Eusebio

Publication type:

Article

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.

Published in:

International Journal of Environmental Research & Public Health, 2020, v. 17, n. 10, p. 3601, doi. 10.3390/ijerph17103601

By:

Rossi, Claudia;
Cicalini, Ilaria;
Rizzo, Cristiano;
Zucchelli, Mirco;
Consalvo, Ada;
Valentinuzzi, Silvia;
Semeraro, Daniela;
Gasparroni, Giorgia;
Brindisino, Patrizia;
Gazzolo, Diego;
Dionisi-Vici, Carlo;
De Laurenzi, Vincenzo;
Pieragostino, Damiana

Publication type:

Article

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047

By:

Ruoppolo, Margherita;
Malvagia, Sabrina;
Boenzi, Sara;
Carducci, Carla;
Dionisi-Vici, Carlo;
Teofoli, Francesca;
Burlina, Alberto;
Angeloni, Antonio;
Aronica, Tommaso;
Bordugo, Andrea;
Bucci, Ines;
Camilot, Marta;
Carbone, Maria Teresa;
Cardinali, Roberta;
Carducci, Claudia;
Cassanello, Michela;
Castana, Cinzia;
Cazzorla, Chiara;
Ciatti, Renzo;
Ferrari, Simona

Publication type:

Article

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.

Published in:

Cells (2073-4409), 2021, v. 10, n. 12, p. 3294, doi. 10.3390/cells10123294

By:

Taranta, Anna;
Elmonem, Mohamed A.;
Bellomo, Francesco;
De Leo, Ester;
Boenzi, Sara;
Janssen, Manoe J.;
Jamalpoor, Amer;
Cairoli, Sara;
Pastore, Anna;
De Stefanis, Cristiano;
Colucci, Manuela;
Rega, Laura R.;
Giovannoni, Isabella;
Francalanci, Paola;
van den Heuvel, Lambertus P.;
Dionisi-Vici, Carlo;
Goffredo, Bianca M.;
Masereeuw, Rosalinde;
Levtchenko, Elena;
Emma, Francesco

Publication type:

Article

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 10, p. 865, doi. 10.1007/s10038-007-0180-z

By:

Didona, Biagio;
Codispoti, Andrea;
Bertini, Enrico;
Rizzo, Wiliam;
Carney, Gael;
Zambruno, Giovanna;
Dionisi-Vici, Carlo;
Paradisi, Mauro;
Pedicelli, Cristina;
Melino, Gerry;
Terrinoni, Alessandro

Publication type:

Article

Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1145111

By:

Maiorana, Arianna;
Tagliaferri, Francesco;
Dionisi-Vici, Carlo

Publication type:

Article

Measurement of Anti-TNF Biologics in Serum Samples of Pediatric Patients: Comparison of Enzyme-Linked Immunosorbent Assay (ELISA) with a Rapid and Automated Fluorescence-Based Lateral Flow Immunoassay.

Published in:

Pharmaceutics, 2025, v. 17, n. 4, p. 421, doi. 10.3390/pharmaceutics17040421

By:

Rossi, Chiara;
Simeoli, Raffaele;
Angelino, Giulia;
Cairoli, Sara;
Bracci, Fiammetta;
Knafelz, Daniela;
Romeo, Erminia Francesca;
Faraci, Simona;
Tarantino, Giusyda;
Mancini, Alessandro;
Vitale, Alessia;
Vici, Carlo Dionisi;
Manzoni, Silvia Magni;
De Angelis, Paola;
Goffredo, Bianca Maria

Publication type:

Article

Pharmacokinetic Evaluation of Oral Viscous Budesonide in Paediatric Patients with Eosinophilic Oesophagitis in Repaired Oesophageal Atresia.

Published in:

Pharmaceutics, 2024, v. 16, n. 7, p. 872, doi. 10.3390/pharmaceutics16070872

By:

Simeoli, Raffaele;
Lava, Sebastiano A. G.;
Di Deo, Alessandro;
Roversi, Marco;
Cairoli, Sara;
Tambucci, Renato;
Rea, Francesca;
Malamisura, Monica;
Angelino, Giulia;
Biondi, Isabella;
Simonetti, Alessandra;
De Angelis, Paola;
Dionisi Vici, Carlo;
Rossi, Paolo;
Pontrelli, Giuseppe;
Della Pasqua, Oscar;
Goffredo, Bianca Maria

Publication type:

Article

Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants.

Published in:

Pharmaceutics, 2022, v. 14, n. 10, p. N.PAG, doi. 10.3390/pharmaceutics14102230

By:

Ferretti, Alessandro;
Simeoli, Raffaele;
Cairoli, Sara;
Pietrafusa, Nicola;
Trivisano, Marina;
Dionisi Vici, Carlo;
Specchio, Nicola;
Goffredo, Bianca Maria

Publication type:

Article

A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients.

Published in:

Pharmaceuticals (14248247), 2024, v. 17, n. 5, p. 649, doi. 10.3390/ph17050649

By:

Simeoli, Raffaele;
Cairoli, Sara;
Greco, Marcella;
Bellomo, Francesco;
Mancini, Alessandro;
Rossi, Chiara;
Dionisi Vici, Carlo;
Emma, Francesco;
Goffredo, Bianca Maria

Publication type:

Article

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).

Published in:

Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 1, p. 165, doi. 10.1515/cclm-2020-0650

By:

Casetta, Bruno;
Malvagia, Sabrina;
Funghini, Silvia;
Martinelli, Diego;
Dionisi-Vici, Carlo;
Barone, Rita;
Fiumara, Agata;
Donati, Maria Alice;
Guerrini, Renzo;
Marca, Giancarlo la

Publication type:

Article

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

Published in:

Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 3, p. 403, doi. 10.1515/cclm-2016-0340

By:

Polo, Giulia;
Burlina, Alessandro P.;
Kolamunnage, Thilini B.;
Zampieri, Michele;
Dionisi-Vici, Carlo;
Strisciuglio, Pietro;
Zaninotto, Martina;
Plebani, Mario;
Burlina, Alberto B.

Publication type:

Article

Clinical utility gene card for: Vici Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.142

By:

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

Publication type:

Article

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-02997-8

By:

Siri, Barbara;
Olivieri, Giorgia;
Lepri, Francesca Romana;
Poms, Martin;
Goffredo, Bianca Maria;
Commone, Anna;
Novelli, Antonio;
Häberle, Johannes;
Dionisi-Vici, Carlo

Publication type:

Article

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0

By:

Di Rocco, Maja;
Vici, Carlo Dionisi;
Burlina, Alberto;
Venturelli, Francesco;
Fiumara, Agata;
Fecarotta, Simona;
Donati, Maria Alice;
Spada, Marco;
Concolino, Daniela;
Pession, Andrea

Publication type:

Article

Use of Antibiotics in Preterm Newborns.

Published in:

Antibiotics (2079-6382), 2022, v. 11, n. 9, p. 1142, doi. 10.3390/antibiotics11091142

By:

Simeoli, Raffaele;
Cairoli, Sara;
Decembrino, Nunzia;
Campi, Francesca;
Dionisi Vici, Carlo;
Corona, Alberto;
Goffredo, Bianca Maria

Publication type:

Article

Therapeutic Drug Monitoring of Amphotericin-B in Plasma and Peritoneal Fluid of Pediatric Patients after Liver Transplantation: A Case Series.

Published in:

Antibiotics (2079-6382), 2022, v. 11, n. 5, p. 640, doi. 10.3390/antibiotics11050640

By:

Tortora, Francesca;
Dei Giudici, Luigi;
Simeoli, Raffaele;
Chiusolo, Fabrizio;
Cairoli, Sara;
Bernaschi, Paola;
Bianchi, Roberto;
Picardo, Sergio Giuseppe;
Dionisi Vici, Carlo;
Goffredo, Bianca Maria

Publication type:

Article

Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).

Published in:

Pediatric Transplantation, 2002, v. 6, n. 5, p. 427, doi. 10.1034/j.1399-3046.2002.02026.x

By:

Caniglia, Maurizio;
Rana, Ippolita;
Pinto, Rita Maria;
Fariello, Giuseppe;
Caruso, Roberta;
Angioni, Adriano;
Dionisi Vici, Carlo;
Sabetta, Gaetano;
De Rossi, Giulio

Publication type:

Article

The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 12, p. 504, doi. 10.3390/metabo10120504

By:

Napolitano, Antonio;
Longo, Daniela;
Lucignani, Martina;
Pasquini, Luca;
Rossi-Espagnet, Maria Camilla;
Lucignani, Giulia;
Maiorana, Arianna;
Elia, Domenica;
De Liso, Paola;
Dionisi-Vici, Carlo;
Cusmai, Raffaella

Publication type:

Article

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 2, p. 44, doi. 10.3390/metabo10020044

By:

Pieragostino, Damiana;
Cicalini, Ilaria;
Di Michele, Silvia;
Fusilli, Paola;
Cotugno, Giovanna;
Ferrante, Rossella;
Bucci, Ines;
Dionisi-Vici, Carlo;
Stuppia, Liborio;
De Laurenzi, Vincenzo;
Rossi, Claudia

Publication type:

Article

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

Published in:

Clinical Endocrinology, 2014, v. 81, n. 5, p. 679, doi. 10.1111/cen.12400

By:

Maiorana, Arianna;
Barbetti, Fabrizio;
Boiani, Arianna;
Rufini, Vittoria;
Pizzoferro, Milena;
Francalanci, Paola;
Faletra, Flavio;
Nichols, Colin G.;
Grimaldi, Chiara;
Ville de Goyet, Jean;
Rahier, Jacques;
Henquin, Jean‐Claude;
Dionisi‐Vici, Carlo

Publication type:

Article

Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.

Published in:

2016

By:

Salvatori, Guglielmo;
Mondì, Vito;
Piersigilli, Fiammetta;
Capolupo, Irma;
Pannone, Veronica;
Vici, Carlo Dionisi;
Rizzo, Cristiano;
Dotta, Andrea

Publication type:

journal article

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus.

Published in:

Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 831, doi. 10.1007/s11739-023-03238-3

By:

Scarpa, Maurizio;
Barbato, Antonio;
Bisconti, Annalisa;
Burlina, Alberto;
Concolino, Daniela;
Deodato, Federica;
Di Rocco, Maja;
Dionisi-Vici, Carlo;
Donati, Maria Alice;
Fecarotta, Simona;
Fiumara, Agata;
Galeone, Carlotta;
Giona, Fiorina;
Giuffrida, Gaetano;
Manna, Raffaele;
Mariani, Paolo;
Pession, Andrea;
Scopinaro, Annalisa;
Spada, Marco;
Spandonaro, Federico

Publication type:

Article

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

Published in:

Nature Genetics, 2013, v. 45, n. 1, p. 83, doi. 10.1038/ng.2497

By:

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;
Koerner, Christian;
Hoffmann, Georg F;
Wijburg, Frits A;
Hoedt, Amber E ten;
Rogers, R Curtis;
Manchester, David;
Miyata, Rie;
Hayashi, Masaharu

Publication type:

Article

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495

By:

Pasquetti, Domizia;
Gazzellone, Annalisa;
Rossi, Salvatore;
Orteschi, Daniela;
L'Erario, Federica Francesca;
Concolino, Paola;
Minucci, Angelo;
Dionisi-Vici, Carlo;
Genuardi, Maurizio;
Silvestri, Gabriella;
Chiurazzi, Pietro

Publication type:

Article

Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neonatal Age.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5898, doi. 10.3390/ijms21165898

By:

De Rose, Domenico Umberto;
Cairoli, Sara;
Dionisi, Marco;
Santisi, Alessandra;
Massenzi, Luca;
Goffredo, Bianca Maria;
Dionisi-Vici, Carlo;
Dotta, Andrea;
Auriti, Cinzia

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 21202, doi. 10.3390/ijms151121202

By:

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

Publication type:

Article

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Published in:

Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z

By:

Torraco, Alessandra;
Ardissone, Anna;
Invernizzi, Federica;
Rizza, Teresa;
Fiermonte, Giuseppe;
Niceta, Marcello;
Zanetti, Nadia;
Martinelli, Diego;
Vozza, Angelo;
Verrigni, Daniela;
Nottia, Michela;
Lamantea, Eleonora;
Diodato, Daria;
Tartaglia, Marco;
Dionisi-Vici, Carlo;
Moroni, Isabella;
Farina, Laura;
Bertini, Enrico;
Ghezzi, Daniele;
Carrozzo, Rosalba

Publication type:

Article

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Published in:

Annals of Neurology, 2003, v. 54, n. s6, p. S56

By:

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. Wevers

Publication type:

Article

Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01782-y

By:

Porta, Francesco;
Maiorana, Arianna;
Gragnaniello, Vincenza;
Procopio, Elena;
Gasperini, Serena;
Taurisano, Roberta;
Spada, Marco;
Dionisi-Vici, Carlo;
Burlina, Alberto

Publication type:

Article

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8

By:

Torraco, Alessandra;
Verrigni, Daniela;
Rizza, Teresa;
Meschini, Maria;
Vazquez-Memije, Martha;
Martinelli, Diego;
Bianchi, Marzia;
Piemonte, Fiorella;
Dionisi-Vici, Carlo;
Santorelli, Filippo;
Bertini, Enrico;
Carrozzo, Rosalba

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Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2

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Journal of Neuroimaging, 2011, v. 21, n. 2, p. e114, doi. 10.1111/j.1552-6569.2010.00476.x

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Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.772873

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Pediatric Nephrology, 2001, v. 16, n. 11, p. 862, doi. 10.1007/s004670100702

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European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1391, doi. 10.1007/s00431-014-2338-y

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Taurisano, Roberta;
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