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| 臺大學術典藏 |
2022-09-06T02:56:08Z |
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
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Yverneau M.; Leroux S.; Imbard A.; Gleich F.; Arion A.; Moreau C.; Nassogne M.-C.; Szymanowski M.; Tardieu M.; Touati G.; Bueno M.; Chapman K.A.; YIN-HSIU CHIEN; Huemer M.; Je?ina P.; Janssen M.C.H.; K?lker S.; Ko?ich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; Martins A.M.; Alonso J.B.; Chabrol B.; Crushell E.; Dionisi-Vici C.; Gr?newald S.; Mention K.; Mundy H.; Murphy E.; Fraile P.Q.; Ruiz C.J.; Ruiz G?mez M.?.; Santra S.; Scherer T.; Stainforth C.; Stepien K.M.; Sunder-Plassmann G.; Van Hove J.L.K.; E-HOD Consortium |
| 臺大學術典藏 |
2014 |
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
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Shih L.-Y.; Freckmann M.-L.; Baker P.R.; Friederich M.W.; Swanson M.A.; Shaikh T.; Bhattacharya K.; Scharer G.H.; Aicher J.; Creadon-Swindell G.; Geiger E.; Maclean K.N.; WANG-TSO LEE; Deshpande C.; Wasserstein M.; Rasmussen M.B.; Lund A.M.; Procopis P.; Cameron J.M.; Robinson B.H.; Brown G.K.; Brown R.M.; Compton A.G.; Dieckmann C.L.; Collard R.; Coughlin C.R.; Spector E.; Wempe M.F.; Van Hove J.L.K. |
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