GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.

Andrea PessionMaja Di RoccoFrancesco VenturelliBarbara TappinoWilliam MorelloNicola SantoroPaola GiordanoBeatrice FilippiniSimona RinieriGiovanna RussoKatia GirardiAntonio RuggieroEulalia GaleaRoberto AntonucciNicola TovaglieriFulvio PortaImmacolata TartaglioneFiorina GionaFranca FagioliAlberto Burlinanull null

Published in: Orphanet journal of rare diseases (2023)

GD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications.

Keyphrases

risk factors
young adults
machine learning
deep learning
stem cells
replacement therapy
escherichia coli
bone marrow
mesenchymal stem cells