RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
ORPHANET JOURNAL OF RARE DISEASES
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;

The Italian registry for patients with Prader-Willi syndrome. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5.

2023
AOU Città della Salute di Torino

Salvatore M; Torreri P; Grugni G; Rocchetti A; Maghnie M; Patti G; Crinò A; Elia M; Greco D; Romano C; Franzese A; Mozzillo E; Colao A; Pugliese G; Pagotto U; Lo Preiato V; Scarano E; Schiavariello C; Tornese G; Fintini D; Bocchini S; Osimani S; De Sanctis L; Sacco M; Rutigliano I; Delvecchio M; Faienza MF; Wasniewska M; Corica D; et alii...

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2022 Feb 2;17(1):33. doi: 10.1186/s13023-022-02179-y.

2022
AOU Alessandria
AOU Città della Salute di Torino

Porta F; Manganaro M; Deaglio S; Vaisitti T; Amoroso A; Nozza P; Barreca A; Bracciamà V; Brezzi B; Kalantari S; Spada M;

The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2021 Sep 4;16(1):374. doi: 10.1186/s13023-021-02013-x.

2021
AOU Città della Salute di Torino

Vaisitti T; Peritore D; Magistroni P; Ricci A; Lombardini L; Gringeri E; Catalano S; Spada M; Sciveres M; Di Giorgio A; Limongelli G; Varrenti M; Gerosa G; Terzi A; Pace Napoleone C; Amodeo A; Ragni L; Dello Strologo L; Benetti E; Fontana I; Testa S; Peruzzi L; Mitrotti A; Abbate S; Comai G; Gotti E; Schiavon M; Boffini M; De Angelis D; et alii...

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives? in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 Sep 23;15(1):262. doi: 10.1186/s13023-020-01529-y.

2020
AOU Città della Salute di Torino

Di Rocco M; Di Fonzo A; Barbato A; Cappellini MD; Carubbi F; Giona F; Giuffrida G; Linari S; Pession A; Quarta A; Scarpa M; Spada M; Strisciuglio P; Andria G;

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8.

2020
AOU Città della Salute di Torino

Opladen T; López-Laso E; Cortès-Saladelafont E; Pearson TS; Sivri HS; Yildiz Y; Assmann B; Kurian MA; Leuzzi V; Heales S; Pope S; Porta F; García-Cazorla A; Honzík T; Pons R; Regal L; Goez H; Artuch R; Hoffmann GF; Horvath G; Thöny B; Scholl-Bürgi S; Burlina A; Verbeek MM; Mastrangelo M; Friedman J; Wassenberg T; Jeltsch K; Kulhánek J; et alii...

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 Aug 5;15(1):202. doi: 10.1186/s13023-020-01464-y.

2020
AOU Città della Salute di Torino