Acid ceramidase deficiency presenting as Farber disease: prospective and retrospective clinical data from anongoing natural history study
dc.contributor.author | Arslan, Nur | |
dc.contributor.author | Lampe, Christina | |
dc.contributor.author | Mitchell, John | |
dc.contributor.author | Harmatz, Paul | |
dc.contributor.author | GÖKÇAY, GÜLDEN FATMA | |
dc.contributor.author | Guelbert, Norberto | |
dc.contributor.author | Magnusson, Bo | |
dc.contributor.author | Sundberg, Erik | |
dc.contributor.author | Puri, Ratna | |
dc.contributor.author | Bijarnia Makay, Sunita | |
dc.contributor.author | Kapoor, Seema | |
dc.contributor.author | Grant, CI | |
dc.contributor.author | Ferreira, Carlos R | |
dc.contributor.author | Selim, Laila | |
dc.contributor.author | Gamal el Din, I | |
dc.contributor.author | ÖNENLİ MUNGAN, HALİSE NESLİHAN | |
dc.contributor.author | BULUT, FATMA DERYA | |
dc.contributor.author | Solyom, Alex | |
dc.contributor.author | Kimura, Alan | |
dc.contributor.author | Torcoletti, Marta | |
dc.contributor.author | Batu, Ezgi Deniz | |
dc.contributor.author | ÖZEN, SEZA | |
dc.contributor.author | DiRocco, Maja | |
dc.contributor.author | MAKAY, BALAHAN | |
dc.date.accessioned | 2022-02-18T09:04:55Z | |
dc.date.available | 2022-02-18T09:04:55Z | |
dc.identifier.citation | Harmatz P., Mitchell J., Lampe C., Grant C., Ferreira C. R. , Selim L., Gamal el Din I., ÖNENLİ MUNGAN H. N. , BULUT F. D. , Guelbert N., et al., "Acid ceramidase deficiency presenting as Farber disease: prospective and retrospective clinical data from anongoing natural history study", SSIEM 2019: Annual Symposium of the Society for theStudy of Inborn Errors of Metabolism, Rotterdam,The Netherlands, 3–6 September 2019, Rotterdam, Hollanda, 3 - 06 Eylül 2019, cilt.42, ss.1-479 | |
dc.identifier.other | av_16bf69f9-3701-405d-9c58-9454a36581ad | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/176466 | |
dc.identifier.uri | https://doi.org/10.1002/jimd.12153 | |
dc.language.iso | eng | |
dc.title | Acid ceramidase deficiency presenting as Farber disease: prospective and retrospective clinical data from anongoing natural history study | |
dc.type | Bildiri | |
dc.contributor.department | , , | |
dc.identifier.volume | 42 | |
dc.contributor.firstauthorID | 3389336 |
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