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Browsing by Author Najmabadi, H.
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2020 | Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)![]() | Fatehi, F.; Okhovat, AA; Nilipour, Y.; Mroczek, M.; Straub, V.; Topf, A.; Palibrk, Aleksa; Perić, Stojan Z.
Nafissi, S.;
| Article | 21aM21a |
| 2012 | Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants | Kroos, Marian; Hoogeveen-Westerveld, Marianne; Michelakakis, Helen; Pomponio, Robert; Van, der Ploeg Ans; Halley, Dicky; Reuser, Arnold; Augoustides-Savvopoulou, Persephone; Ausems, Margreet; Llona, Jose Barcena;
Bautista, Lorite Juan; van, der Beek Nadine; Bonafe, Luisa; Cuk, Mario; D'Hooghe, Marc; Engelen, Baziel; Farouk, A.; Fumic, K.; Garcia-Delgado, E.; Herzog, Andreas; Hurst, J.; Jones, Simon; Kariminejad, M. H.; Küçükçongar, Aynur; Lissens, W.; Lund, Allan; Majoor-Krakauer, Danielle; Kumamoto, Shingo; Maravi, E.; Marie, Suely; Mengel, Eugen; Mavridou, Irene; Munteis, Olivas E.; Najmabadi, H.; Okumiya, Toshika; Perić, Stojan
| Article | 21aM21a |
