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...
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....
Authors: Y. Gaston-Mathé, T. Fan, A. Shaunik, C.Brulle-Wohlhueter, A. Civet Date: 11–15 September 2017 CONFERENCE/VALUE IN HEALTH INFO:N°811,...