검색결과 : 3건
| No. | Article |
|---|---|
| 1 |
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 |
| 2 |
IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS Science, 330(6002), 336, 2010 |
| 3 |
Null mutations and lethal congenital form of glycogen storage disease type IV Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C Biochemical and Biophysical Research Communications, 361(2), 445, 2007 |