Abstracts tagged "Farber disease"

Abstract Number: 2724 • 2019 ACR/ARP Annual Meeting
Farber Disease (Acid Ceramidase Deficiency): The First Natural History Study of This Rare Disease Involving Symptoms Which Can Mimic JIA
Alexander Solyom¹, Erik Sundberg ², John Mitchell ³, Christina Grant ⁴, Carlos Ferreira ⁵, Paul Harmatz ⁶, Neslihan Mungan ⁷, Fatma Bulut ⁷, Christina Lampe ⁸, Andreas Hahn ⁸, Norberto Guelbert ⁹, Nur Arslan ¹⁰, Balahan Makay ¹⁰, Ratna Puri ¹¹, Sunita Bijarnia-Mahay ¹¹, Laila Selim ¹², Iman Gamal el Din ¹², Seema Kapoor ¹³, Maja DiRocco ¹⁴, Seza Ozen ¹⁵, Ezgi Batu ¹⁵, Gulden Gokcay ¹⁶, Marta Torcoletti ¹⁷, Alan Kimura ¹⁸ and Bo Magnusson ², ¹Enzyvant, Basel, Switzerland, ²Karolinska University Hospital, Stockholm, Sweden, ³Montreal Children's Hospital, Montreal, Canada, ⁴Children's National Medical Center, Washingotn, DC, ⁵Children's National Medical Center, Washington, DC, ⁶UCSF Benioff Children's Hospital Oakland, Oakland, CA, ⁷Cukurova University Hospital, Adana, Turkey, ⁸University Hospital Giessen, Giessen, Germany, ⁹Children's Hospital of Cordoba, Cordoba, Argentina, ¹⁰Dokuz Eylul University Hospital, Izmir, Turkey, ¹¹Sir Ganga Ram Hospital, Delhi, India, ¹²Cairo University Children's Hospital, Cairo, Egypt, ¹³13Lok Nayak Hospital and Maulana Azad Medical College, Delhi, India, ¹⁴Istituto Giannina Gaslini, Genoa, Italy, ¹⁵Hacettepe University Hospital, Ankara, Turkey, ¹⁶Istanbul University, Istanbul, Turkey, ¹⁷University of Milan, Milan, Italy, ¹⁸Enzyvant, Cambridge, MA
Background/Purpose: The cardinal clinical symptoms of Farber disease (arthritis/contractures, subcutaneous granulomatous nodules, dysphonia) may be misdiagnosed as JIA. Mutations in the ASAH1 gene and the…

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