The Italian registry for patients with Prader–Willi syndrome
The Italian registry for patients with Prader–Willi syndrome
About this item
Full title
Author / Creator
Salvatore, Marco , Torreri, Paola , Grugni, Graziano , Rocchetti, Adele , Maghnie, Mohamad , Patti, Giuseppa , Crinò, Antonino , Elia, Maurizio , Greco, Donatella , Romano, Corrado , Franzese, Adriana , Mozzillo, Enza , Colao, Annamaria , Pugliese, Gabriella , Pagotto, Uberto , Lo Preiato, Valentina , Scarano, Emanuela , Schiavariello, Concetta , Tornese, Gianluca , Fintini, Danilo , Bocchini, Sarah , Osimani, Sara , De Sanctis, Luisa , Sacco, Michele , Rutigliano, Irene , Delvecchio, Maurizio , Faienza, Maria Felicia , Wasniewska, Malgorzata , Corica, Domenico , Stagi, Stefano , Guazzarotti, Laura , Maffei, Pietro , Dassie, Francesca and Taruscio, Domenica
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Prader-Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical and epidemiologic data, (2) to assess the clinical management includi...
Alternative Titles
Full title
The Italian registry for patients with Prader–Willi syndrome
Authors, Artists and Contributors
Author / Creator
Torreri, Paola
Grugni, Graziano
Rocchetti, Adele
Maghnie, Mohamad
Patti, Giuseppa
Crinò, Antonino
Elia, Maurizio
Greco, Donatella
Romano, Corrado
Franzese, Adriana
Mozzillo, Enza
Colao, Annamaria
Pugliese, Gabriella
Pagotto, Uberto
Lo Preiato, Valentina
Scarano, Emanuela
Schiavariello, Concetta
Tornese, Gianluca
Fintini, Danilo
Bocchini, Sarah
Osimani, Sara
De Sanctis, Luisa
Sacco, Michele
Rutigliano, Irene
Delvecchio, Maurizio
Faienza, Maria Felicia
Wasniewska, Malgorzata
Corica, Domenico
Stagi, Stefano
Guazzarotti, Laura
Maffei, Pietro
Dassie, Francesca
Taruscio, Domenica
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e788ecaab80a41e2a602680820cf9f57
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e788ecaab80a41e2a602680820cf9f57
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02633-5