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Farber disease (acid ceramidase deficiency): demographic and diagnostic data from the first-ever natural history study

dc.contributor.authorOzen, S.
dc.contributor.authorMakay, B.
dc.contributor.authorPuri, R. D.
dc.contributor.authorBijarnia-Mahay, S.
dc.contributor.authorSelim, L.
dc.contributor.authorel Din, I. Gamal
dc.contributor.authorKapoor, S.
dc.contributor.authorDiRocco, M.
dc.contributor.authorBatu, E. D.
dc.contributor.authorTorcoletti, M.
dc.contributor.authorKarafilidis, J.
dc.contributor.authorSolyom, A.
dc.contributor.authorGokcay, G.
dc.contributor.authorSundberg, E.
dc.contributor.authorMagnusson, B.
dc.contributor.authorFerreira, C. R.
dc.contributor.authorGrant, C.
dc.contributor.authorMitchell, J.
dc.contributor.authorHarmatz, P.
dc.contributor.authorMungan, N. O.
dc.contributor.authorBulut, F. D.
dc.contributor.authorLampe, C.
dc.contributor.authorGuelbert, N.
dc.contributor.authorArslan, N.
dc.date.accessioned2021-03-03T08:06:37Z
dc.date.available2021-03-03T08:06:37Z
dc.identifier.citationSundberg 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.otherav_15b8dd89-23cd-444f-99b4-7c442cf51584
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/19966
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.titleFarber disease (acid ceramidase deficiency): demographic and diagnostic data from the first-ever natural history study
dc.typeBildiri
dc.contributor.departmentKarolinska Institutet (Karolinska Institute) , ,
dc.identifier.volume27
dc.contributor.firstauthorID157528


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