RE-BVS – Piemonte Repository

Sfoglia per AUTORE
DIONISI-VICI C
Collezione AOU Città della Salute di Torino

Items : 7

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2024 Jan 2;19(1):3. doi: 10.1186/s13023-023-02997-8.

2024
AOU Città della Salute di Torino

Siri B; Olivieri G; Lepri FR; Poms M; Goffredo BM; Commone A; Novelli A; Häberle J; Dionisi-Vici C;

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study. in European journal of endocrinology / Eur J Endocrinol. 2023 Nov 8;189(5):485-494. doi: 10.1093/ejendo/lvad137.

2023
AOU Città della Salute di Torino

Siri B; D'Alessandro A; Maiorana A; Porzio O; Ravà L; Dionisi-Vici C; Cappa M; Martinelli D;

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus. in Internal and emergency medicine / Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7.

2023
AOU Città della Salute di Torino

Scopinaro A; Spada M; Pession A; Mariani P; Manna R; Giuffrida G; Giona F; Galeone C; Fiumara A; Fecarotta S; Dionisi-Vici C; Donati MA; Di Rocco M; Deodato F; Concolino D; Burlina A; Bisconti A; Barbato A; Scarpa M; Spandonaro F; Trifirò G; Carubbi F; Cappellini MD;

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H(2)S homeostasis. in Redox biology / Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18.

2022
AOU Città della Salute di Torino

Porta F; Santer R; Martinelli D; Laugwitz L; Kuster A; Ješina P; Honzík T; Haack TB; García-Cazorla Á; Dionisi-Vici C; Gasperini S; Sykut-Cegielska J; Blessing H; Barvíková K; Clayton P; Mills P; Stib?rková B; Vaculíková-Fantlová T; Khalil Y; K?ížek T; Ditroi T; Krijt J; K?ížková M; Sokolová J; Kožich V; Schwahn BC; Schwarz G; Nagy P;

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience. in International journal of neonatal screening / Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047.

2022
AOU Città della Salute di Torino

Ruoppolo M; Malvagia S; Boenzi S; Carducci C; Dionisi-Vici C; Teofoli F; Burlina A; Angeloni A; Aronica T; Bordugo A; Bucci I; Camilot M; Carbone MT; Cardinali R; Carducci C; Cassanello M; Castana C; Cazzorla C; Ciatti R; Ferrari S; Frisso G; Funghini S; Furlan F; Gasperini S; Gragnaniello V; Guzzetti C; La Marca G; La Spina L; Lorè T; et alii...

The diagnostic challenge of mild citrulline elevation at newborn screening. in Molecular genetics and metabolism / Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20.

2022
AOU Città della Salute di Torino

Rossi C; Novelli A; Lepri FR; La Marca G; Giovanniello T; Cotugno G; Di Michele S; Carducci C; Cairoli S; Olivieri G; Angeloni A; Siri B; Semeraro M; Dionisi-Vici C;

Diagnostic Approach to Acute Liver Failure in Children: A Position Paper by the SIGENP Liver Disease Working Group. in Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver / Dig Liver Dis. 2021 May;53(5):545-557. doi: 10.1016/j.dld.2021.03.004. Epub 2021 Mar 26.

2021
AOU Città della Salute di Torino

Di Giorgio A; Bartolini E; Calvo PL; Cananzi M; Cirillo F; Della Corte C; Dionisi-Vici C; Indolfi G; Iorio R; Maggiore G; Mandato C; Nebbia G; Nicastro E; Pinon M; Ranucci G; Sciveres M; Vajro P; D'Antiga L;