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Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
Published in:
2015
By:
- Maiorana, Arianna;
- Manganozzi, Lucilla;
- Barbetti, Fabrizio;
- Bernabei, Silvia;
- Gallo, Giorgia;
- Cusmai, Raffaella;
- Caviglia, Stefania;
- Dionisi-Vici, Carlo
Publication type:
journal article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
By:
- Fecarotta, Simona;
- Romano, Alfonso;
- Casa, Roberto Della;
- Giudice, Ennio Del;
- Bruschini, Diana;
- Mansi, Giuseppina;
- Bembi, Bruno;
- Dardis, Andrea;
- Fiumara, Agata;
- Rocco, Maja Di;
- Uziel, Graziella;
- Ardissone, Anna;
- Roccatello, Dario;
- Alpa, Mirella;
- Bertini, Enrico;
- D'Amico, Adele;
- Dionisi-Vici, Carlo;
- Deodato, Federica;
- Caviglia, Stefania;
- Federico, Antonio
Publication type:
Article
Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy.
Published in:
European Journal of Pediatrics, 2024, v. 183, n. 2, p. 965, doi. 10.1007/s00431-023-05337-x
By:
- Bani, Marco;
- Caviglia, Stefania;
- Bensi, Giulia;
- Carcereri, Mirsada Sarah;
- Greco, Benedetta;
- Lastrucci, Elisa;
- Massa, Pamela;
- Vissani, Sofia;
- Cazzorla, Chiara
Publication type:
Article
Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02644-2
By:
- Manti, Filippo;
- Caviglia, Stefania;
- Cazzorla, Chiara;
- Dicintio, Annamaria;
- Pilotto, Andrea;
- Burlina, Alessandro P.
Publication type:
Article
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Published in:
Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02488-2
By:
- Manti, Filippo;
- Caviglia, Stefania;
- Cazzorla, Chiara;
- Dicintio, Annamaria;
- Pilotto, Andrea;
- Burlina, Alessandro P.
Publication type:
Article
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Published in:
2021
By:
- Maiorana, Arianna;
- Caviglia, Stefania;
- Greco, Benedetta;
- Alfieri, Paolo;
- Cumbo, Francesca;
- Campana, Carmen;
- Bernabei, Silvia Maria;
- Cusmai, Raffaella;
- Mosca, Antonella;
- Dionisi-Vici, Carlo
Publication type:
journal article
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648
By:
- Greco, Benedetta;
- Caviglia, Stefania;
- Martinelli, Diego;
- Capitello, Teresa Grimaldi;
- Liccardo, Daniela;
- De Nictolis, Francesca;
- Pietrobattista, Andrea;
- Huemer, Martina;
- Piga, Simone;
- Olivieri, Giorgia;
- Spagnoletti, Gionata;
- Spada, Marco;
- Dionisi‐Vici, Carlo
Publication type:
Article
Neurologic outcome following liver transplantation for methylmalonic aciduria.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 450, doi. 10.1002/jimd.12599
By:
- Martinelli, Diego;
- Catesini, Giulio;
- Greco, Benedetta;
- Guarnera, Alessia;
- Parrillo, Chiara;
- Maines, Evelina;
- Longo, Daniela;
- Napolitano, Antonio;
- De Nictolis, Francesca;
- Cairoli, Sara;
- Liccardo, Daniela;
- Caviglia, Stefania;
- Sidorina, Anna;
- Olivieri, Giorgia;
- Siri, Barbara;
- Bianchi, Roberto;
- Spagnoletti, Gionata;
- Dello Strologo, Luca;
- Spada, Marco;
- Dionisi‐Vici, Carlo
Publication type:
Article

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