TY  - GEN 
AU  - Aimee, Donald
AU  - Fernández-Marín, E.
AU  - Uberos Fernández, José
PY  - 2025
UR  - https://hdl.handle.net/10481/104181
AB  - ‘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 from hydropic perinatal...
LA  - eng
PB  - Elsevier
TI  - 250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation
DO  - 10.1016/j.ymgme.2025.109124
ER  -