2024, 07 March
Machine learning achieves promising performance in...
Delays in the diagnosis of rare genetic conditions such as acid sphingomyelinase deficiency (ASMD) highlight the necessity for diagnostic...
2024, 07 March
Tailored diagnostic decision tree resulting from m...
Publisher: WorldSymposia Authors: M. Domenica Cappellini, R. Giugliani, M. Törnqvist, P. Guilmin, C.Clémente, M. Montmerle, A. Chiorean, T....
2023, 12 October
A machine learning algorithm to identify persons a...
Gaucher disease is a rare inherited lysosomal storage disorder (LSD) which mainly leads to hepatosplenomegaly, anemia, thrombocytopenia, bone lesio...
2023, 27 September
A promising algorithm for early diagnosis and inte...
A promising algorithm for early diagnosis of Acid Sphingomyelinase Deficiency (ASMD) in patients with unexplained Interstitial Lung Disease...
2023, 09 September
Development of a rare disease algorithm to identif...
Publisher: Orphanet Journal of Rare Diseases Authors: A. Wilson, A. Chiorean, M. Aguiar, D. Sekulic, P. Pavlick, N. Shah,L. Sniderman King, M....
2022, 07 February
Identifying patients with Gaucher Disease type 3 (...
Authors: C. Rochmann, M. Génin, M. Blanchon, N. Lambert, L. Deplante, W. Heine, S.Kabadi Date: 7–11 February 2022 DOI:...
2022, 02 February
Clustered analysis of Fabry disease progression in...
Publisher: ScienceDirect Authors: A. Chiorean, S. Kabadi, P. Hayat, M. Montmerle, E. Ponce, M. Blanchon, N. Lyn, M. Maski Date: 7–11 February...