Evaluating the Potential of Synthetic Patient Data...
Authors: M. Tornqvist1, L. Dry1, G. Pinon1, A. Movschin11Quinten Health, Paris, France Date: 19 November 2024 Code : MSR138 CONFERENCE/VALUE IN...
Authors: M. Tornqvist1, L. Dry1, G. Pinon1, A. Movschin11Quinten Health, Paris, France Date: 19 November 2024 Code : MSR138 CONFERENCE/VALUE IN...
Delays in the diagnosis of rare genetic conditions such as acid sphingomyelinase deficiency (ASMD) highlight the necessity for diagnostic...
Publisher: WorldSymposia Authors: M. Domenica Cappellini, R. Giugliani, M. Törnqvist, P. Guilmin, C.Clémente, M. Montmerle, A. Chiorean, T....
Gaucher disease is a rare inherited lysosomal storage disorder (LSD) which mainly leads to hepatosplenomegaly, anemia, thrombocytopenia, bone lesio...
Publisher: ERS International Congress Authors: Imre Noth, Francesco Bonella, Wim A. Wuyts, Pauline Guilmin, Margaux Törnqvist, Stefaan Sansen,...
Authors: I. Noth, F. Bonella, W.A. Wuyts, P. Guilmin, M. Törnqvist, S. Sansen, A. Dumitriu, N. Shah, M. Gasparic, M. Montmerle Date : September...
Publisher: Orphanet Journal of Rare Diseases Authors: A. Wilson, A. Chiorean, M. Aguiar, D. Sekulic, P. Pavlick, N. Shah,L. Sniderman King, M....
Publisher: Springer Link Authors: Z. Xu, B. Biswas, L. Li, B. Amzal Date: 13 June 2023 DOI: doi.org/10.1007/s43441-023-00541-1Abstract Background...
Authors: B. Amzal, F. Magnard, P. Loustalot, M. Törnqvist, M. Rakibaz-Zaman, DS Ernst, F. Gwadry-Sridhar Date: 17 May 2023 CONFERENCE/VALUE IN...
Authors: M. Rollot, M. Bonnemaire, C. Brulle-Wohlhueter, L. Pedrazzini, E. Boëlle-Le Corfec, G. Bigot, M. Didac, R. Bonadonna, P. Gourdy, D....