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Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

AuthorsMarta Torcoletti, Antonella Petaccia, Rita Maria Pinto, Uros Hladnik, Franco Locatelli, Carlo Agostoni, Fabrizia Corona
JournalRheumatology (Oxford, England) (Rheumatology (Oxford)) Vol. 53 Issue 8 Pg. 1533-4 (Aug 2014) ISSN: 1462-0332 [Electronic] England
PMID24614645 (Publication Type: Letter)
Chemical References
  • ASAH1 protein, human
  • Acid Ceramidase
Topics
  • Acid Ceramidase (genetics)
  • Arthritis, Juvenile (diagnosis, genetics)
  • Diagnosis, Differential
  • Farber Lipogranulomatosis (diagnosis, genetics, surgery)
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Infant
  • Male
  • Mutation
  • Treatment Outcome

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