1.
Pediatrics
; 109(6): 1170-3, 2002 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12042560
RESUMO
We report on the case of a girl with type 1 Gaucher's disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher's disease, alternative strategies such as fractionated or further increased ERT, gene therapy, or glucosyltransferase inhibitor should be explored.