GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
About this item
Full title
Author / Creator
Pediatric Gaucher Study Group , Pession, Andrea , Di Rocco, Maja , Venturelli, Francesco , Tappino, Barbara , Morello, William , Santoro, Nicola , Giordano, Paola , Filippini, Beatrice , Rinieri, Simona , Russo, Giovanna , Girardi, Katia , Ruggiero, Antonio , Galea, Eulalia , Antonucci, Roberto , Tovaglieri, Nicola , Porta, Fulvio , Tartaglione, Immacolata , Giona, Fiorina , Fagioli, Franca and Burlina, Alberto
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD.
DBS samples were...
Alternative Titles
Full title
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
Authors, Artists and Contributors
Author / Creator
Pession, Andrea
Di Rocco, Maja
Venturelli, Francesco
Tappino, Barbara
Morello, William
Santoro, Nicola
Giordano, Paola
Filippini, Beatrice
Rinieri, Simona
Russo, Giovanna
Girardi, Katia
Ruggiero, Antonio
Galea, Eulalia
Antonucci, Roberto
Tovaglieri, Nicola
Porta, Fulvio
Tartaglione, Immacolata
Giona, Fiorina
Fagioli, Franca
Burlina, Alberto
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_92faecc5e2424f989cb71afd6db08634
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_92faecc5e2424f989cb71afd6db08634
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02760-z
