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"santra s"
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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 |
2022-03-28T02:46:01Z |
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
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Ko?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortium |
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