Abstract:
: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.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Perel Y,Bioulac-Sage P,Chateil JF,Trillaud H,Carles J,Lamireau T,Guillard JMdoi
10.1542/peds.109.6.1170subject
Has Abstractpub_date
2002-06-01 00:00:00pages
1170-3issue
6eissn
0031-4005issn
1098-4275journal_volume
109pub_type
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