title: Successful hematopoietic stem cell transplantation in Farber disease.
abstract: Farber disease, a lysosomal storage disorder, has a dismal prognosis leading to death with progressive granulomatous inflammation, even in patients without central nervous system involvement (type 2/3). We report the first successful hematopoietic stem cell transplantations in 2 patients with Farber disease type 2/3, resulting in resolution of symptoms.
authors.affiliation: Department of Pediatric Hematology and Oncology and the Department of Pediatrics, University Children's Hospital Münster, Münster, Germany.
authors.forename: Josef
authors.initials: J
authors.lastname: Vormoor
authors.forename: Karoline
authors.initials: K
authors.lastname: Ehlert
authors.forename: Andreas H
authors.initials: AH
authors.lastname: Groll
authors.forename: Hans-Georg
authors.initials: HG
authors.lastname: Koch
authors.forename: Michael
authors.initials: M
authors.lastname: Frosch
authors.forename: Johannes
authors.initials: J
authors.lastname: Roth
mesh_terms: D002675:Child, Preschool; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000172:deficiency*; D006099:Granuloma / Q000601:surgery*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000601:surgery*; D008297:Male
chemical_list: D002517:Galactosylgalactosylglucosylceramidase