Farber disease (acid ceramidase deficiency): demographic and diagnostic data from the first-ever natural history study
E. Sundberg,B. Magnusson,C. R. Ferreira,C. Grant,J. Mitchell,P. Harmatz, N. O. Mungan,F. D. Bulut,C. Lampe,N. Guelbert,N. Arslan,B. Makay,R. D. Puri,S. Bijarnia-Mahay,L. Selim, I. Gamal el Din,S. Kapoor,M. DiRocco,S. Ozen,E. D. Batu,G. Gokcay, M. Torcoletti, J. Karafilidis, A. Solyom EUROPEAN JOURNAL OF HUMAN GENETICS（2019）
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