Donald, A; Brothwell, S; Cabello, B-M; Ehrstedt, C; Fernández-Fructuoso, Jose-Ramón; Fernández-Marin, E; González-Lamuno, D; Lloreda-García, José-María; Lykopoulou, L; Mignot, C; Nurse, J; O'Sullivan, S; Persson, A-N; Raiman, J; Rajan, D-S; Uberos, J; Jones, S-A; Church, H-J
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2025-06)
'Type 2' Gaucher disease, also referred to as 'acute neuronopathic' or 'infantile' Gaucher disease is an aggressive subtype of Gaucher disease, resulting from pathogenic variants in GBA1. The spectrum of phenotype ranges ...