검색결과 : 3건
| No. | Article |
|---|---|
| 1 |
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation Bruneel A, Cholet S, Drouin-Garraud V, Jacquemont ML, Cano A, Megarbane A, Ruel C, Cheillan D, Dupre T, Vuillaumier-Barrot S, Seta N, Fenaille F Electrophoresis, 39(24), 3123, 2018 |
| 2 |
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients Duvet S, Mouajjah D, Peanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F Electrophoresis, 39(24), 3133, 2018 |
| 3 |
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation Eklund EA, Sun LW, Yang SP, Pasion RM, Thorland EC, Freeze HH Biochemical and Biophysical Research Communications, 339(3), 755, 2006 |