dc.contributor.author | Ozen, S. | |
dc.contributor.author | Makay, B. | |
dc.contributor.author | Puri, R. D. | |
dc.contributor.author | Bijarnia-Mahay, S. | |
dc.contributor.author | Selim, L. | |
dc.contributor.author | el Din, I. Gamal | |
dc.contributor.author | Kapoor, S. | |
dc.contributor.author | DiRocco, M. | |
dc.contributor.author | Batu, E. D. | |
dc.contributor.author | Torcoletti, M. | |
dc.contributor.author | Karafilidis, J. | |
dc.contributor.author | Solyom, A. | |
dc.contributor.author | Gokcay, G. | |
dc.contributor.author | Sundberg, E. | |
dc.contributor.author | Magnusson, B. | |
dc.contributor.author | Ferreira, C. R. | |
dc.contributor.author | Grant, C. | |
dc.contributor.author | Mitchell, J. | |
dc.contributor.author | Harmatz, P. | |
dc.contributor.author | Mungan, N. O. | |
dc.contributor.author | Bulut, F. D. | |
dc.contributor.author | Lampe, C. | |
dc.contributor.author | Guelbert, N. | |
dc.contributor.author | Arslan, N. | |
dc.date.accessioned | 2021-03-03T08:06:37Z | |
dc.date.available | 2021-03-03T08:06:37Z | |
dc.identifier.citation | Sundberg E., Magnusson B., Ferreira C. R. , Grant C., Mitchell J., Harmatz P., Mungan N. O. , Bulut F. D. , Lampe C., Guelbert N., et al., "Farber disease (acid ceramidase deficiency): demographic and diagnostic data from the first-ever natural history study", 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1332-1333 | |
dc.identifier.other | av_15b8dd89-23cd-444f-99b4-7c442cf51584 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/19966 | |
dc.language.iso | eng | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Sitogenetik | |
dc.subject | Temel Bilimler | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | BİYOKİMYA VE MOLEKÜLER BİYOLOJİ | |
dc.title | Farber disease (acid ceramidase deficiency): demographic and diagnostic data from the first-ever natural history study | |
dc.type | Bildiri | |
dc.contributor.department | Karolinska Institutet (Karolinska Institute) , , | |
dc.identifier.volume | 27 | |
dc.contributor.firstauthorID | 157528 | |