التفاصيل البيبلوغرافية
| العنوان: |
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy |
| المؤلفون: |
Elsea, SH, Solyom, A, Martin, K, Harmatz, P, Mitchell, J, Lampe, C, Grant, C, Selim, L, Mungan, NO, Guelbert, N, Magnusson, B, Sundberg, E, Puri, R, Kapoor, S, Arslan, N, DiRocco, M, Zaki, M, Ozen, S, Mahmoud, IG, Ehlert, K, Hahn, A, Gokcay, G, Torcoletti, M, Ferreira, CR |
| المصدر: |
Human mutation. 41(9):1469-1487 |
| مصطلحات موضوعية: |
Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Klinisk medicin, Neurologi |
| الوصول الحر: |
http://kipublications.ki.se/Default.aspx?queryparsed=id:144042828Test |
| قاعدة البيانات: |
SwePub |
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