| 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 |
| 臺大學術典藏 |
2020-12-24T06:16:26Z |
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
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Aksglaede L.; K?lker S.; Chabrol B.; Walter J.H.; Zeman J.; Sykut-Cegielska J.; Schiff M.; Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; Hwu W.-L.; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
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Nagamani S.C.S.; Garcia-Cazorla A.; Hoffmann G.F.; de Lonlay P.; Gleich F.; Gropman A.L.; Garbade S.F.; Posset R.; YIN-HSIU CHIEN; Schiff M.; Bari? I.; Augoustides-Savvopoulou P.; Ruiz?Gomez A.; Sykut-Cegielska J.; Couce M.L.; Blasco-Alonso J.; Karall D.; M?tze U.; Williams M.; Dionisi-Vici C.; Lund A.M.; Pedr?n-Giner C.; Le?o?Teles E.; Baumgartner M.R.; Schulze A.; Dobbelaere D.; Yudkoff M.; K?lker S.; Zielonka M.; Ah?Mew N.; Berry S.A.; McCandless S.E.; Coughlin C.; Enns G.; Gallagher R.C.; Burrage L.C.; Seminara J.; Harding C.O.; Burgard P.; Le?Mons C.; Merritt J.L.; II, Stricker T.; Bedoyan J.K.; Berry G.T.; Diaz G.A.; Wong D.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.D.; Burlina A.B.; Lindner M.; Chabrol B.; Skouma A.; Zeman J.; Sokal E.; Santer R.; Eyskens F.; Freisinger P.; Pe?a-Quintana L.; Roland D.; Cort?s-Saladelafont E.; Djordjevic M.; Urea Cycle Disorders Consortium (UCDC), European registry; network for Intoxication type Metabolic Diseases (E-IMD) |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
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Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
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Posset R.;Garbade S.F.;Boy N.;Burlina A.B.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;De Lonlay P.;Teles E.L.;Vara R.;Ah Mew N.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.;Seminara J.;Summar M.;Hoffmann G.F.;K?Lker S.;Burgard P.;Berry S.A.;Burrage L.;Coughlin C.;Diaz G.A.;Gallagher R.C.;Gropman A.;Harding C.O.;Lee B.;Le Mons C.;Merritt J.L.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeld-Adams J.;Wong D.;Yudkoff M.;Arnoux J.-B.;Bari? I.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?S-Saladefont E.;Couce M.L.;De Laet C.;De Meirleir L.;Eyskens F.;Freisinger P.;Gleich F.;Gr?Newald S.;H?Berle J.;Wuh-Liang Hwu;Jalan A.;Karall D.;Lindner M.;Lund A.M.;Martinelli D.;Murphy E.;M?Hlhausen C.;Olivieri G.;Ottolenghi C.;Rodrigues E.;Rubert L.;Sarajlija A.;Schiff M.;Sokal E.;Sykut-Cegielska J.;Walter J.H.;Williams M.;Zeman J.;Additional Individual Contributors Of The Ucdc;The E-Imd Consortium; Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Ah Mew N.; Batshaw M.L.; Baumgartner M.R.; McCandless S.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Merritt J.L.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.; Wong D.; Yudkoff M.; Arnoux J.-B.; Bari? I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?s-Saladefont E.; Couce M.L.; de Laet C.; de Meirleir L.; Eyskens F.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; Sykut-Cegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional Individual Contributors Of The Ucdc; The E-Imd Consortium |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
|
Posset R.;Garbade S.F.;Boy N.;Burlina A.B.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;De Lonlay P.;Teles E.L.;Vara R.;Ah Mew N.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.;Seminara J.;Summar M.;Hoffmann G.F.;K?Lker S.;Burgard P.;Berry S.A.;Burrage L.;Coughlin C.;Diaz G.A.;Gallagher R.C.;Gropman A.;Harding C.O.;Lee B.;Le Mons C.;Merritt J.L.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeld-Adams J.;Wong D.;Yudkoff M.;Arnoux J.-B.;Bari? I.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?S-Saladefont E.;Couce M.L.;De Laet C.;De Meirleir L.;Eyskens F.;Freisinger P.;Gleich F.;Gr?Newald S.;H?Berle J.;Wuh-Liang Hwu;Jalan A.;Karall D.;Lindner M.;Lund A.M.;Martinelli D.;Murphy E.;M?Hlhausen C.;Olivieri G.;Ottolenghi C.;Rodrigues E.;Rubert L.;Sarajlija A.;Schiff M.;Sokal E.;Sykut-Cegielska J.;Walter J.H.;Williams M.;Zeman J.;Additional Individual Contributors Of The Ucdc;The E-Imd Consortium; Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Ah Mew N.; Batshaw M.L.; Baumgartner M.R.; McCandless S.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Merritt J.L.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.; Wong D.; Yudkoff M.; Arnoux J.-B.; Bari? I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?s-Saladefont E.; Couce M.L.; de Laet C.; de Meirleir L.; Eyskens F.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; Sykut-Cegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional Individual Contributors Of The Ucdc; The E-Imd Consortium |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
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Lonlay P.; Martinelli D.; Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium; Lindner M.; Karall D.; Laet C.; Jalan A.; Garcia-Cazorla A.; Valayannopoulos V.; Le?o Teles E.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Arnoux J.-B.; Bari? I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Posset R.;Garcia-Cazorla A.;Valayannopoulos V.;Le?O Teles E.;Dionisi-Vici C.;Brassier A.;Burlina A.B.;Burgard P.;Cort?S-Saladelafont E.;Dobbelaere D.;Couce M.L.;Sykut-Cegielska J.;H?Berle J.;Lund A.M.;Chakrapani A.;Schiff M.;Walter J.H.;Zeman J.;Vara R.;K?Lker S.;Arnoux J.-B.;Bari? I.;Bauchart E.;Baumgartner M.R.;Blasco-Alonso J.;Cardoso M.T.;Chabrol B.;Djordjevic M.;Eyskens F.;Freisinger P.;Gleich F.;Gradowska W.;Gr?Newald S.;Haege G.;Wuh-Liang Hwu;Ioannou H.;Jalan A.;Karall D.;Laet C.;Lindner M.;Lonlay P.;Martinelli D.;Meirleir L.;Mention K.;M?Hlhausen C.;Murphy E.;Baulny H.O.;Ortez C.;Pe?A-Quintana L.;Riches V.;Rodrigues E.;Sokal E.;Thompson N.;Wijburg F.A.;Williams M.;Zielonka M.;Additional Individual Contributors Of The E-Imd Consortium; Posset R. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
|
Lonlay P.; Martinelli D.; Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium; Lindner M.; Karall D.; Laet C.; Jalan A.; Garcia-Cazorla A.; Valayannopoulos V.; Le?o Teles E.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Arnoux J.-B.; Bari? I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Posset R.;Garcia-Cazorla A.;Valayannopoulos V.;Le?O Teles E.;Dionisi-Vici C.;Brassier A.;Burlina A.B.;Burgard P.;Cort?S-Saladelafont E.;Dobbelaere D.;Couce M.L.;Sykut-Cegielska J.;H?Berle J.;Lund A.M.;Chakrapani A.;Schiff M.;Walter J.H.;Zeman J.;Vara R.;K?Lker S.;Arnoux J.-B.;Bari? I.;Bauchart E.;Baumgartner M.R.;Blasco-Alonso J.;Cardoso M.T.;Chabrol B.;Djordjevic M.;Eyskens F.;Freisinger P.;Gleich F.;Gradowska W.;Gr?Newald S.;Haege G.;Wuh-Liang Hwu;Ioannou H.;Jalan A.;Karall D.;Laet C.;Lindner M.;Lonlay P.;Martinelli D.;Meirleir L.;Mention K.;M?Hlhausen C.;Murphy E.;Baulny H.O.;Ortez C.;Pe?A-Quintana L.;Riches V.;Rodrigues E.;Sokal E.;Thompson N.;Wijburg F.A.;Williams M.;Zielonka M.;Additional Individual Contributors Of The E-Imd Consortium; Posset R. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
|
Heringer J.;Valayannopoulos V.;Lund A.M.;Wijburg F.A.;Freisinger P.;Bari? I.;Baumgartner M.R.;Burgard P.;Burlina A.B.;Chapman K.A.;I Saladelafont E.C.;Karall D.;M?Hlhausen C.;Riches V.;Schiff M.;Sykut-Cegielska J.;Walter J.H.;Zeman J.;Chabrol B.;K?Lker S.;Aksglaede L.;Avram P.;Balmaseda-Serrano E.;Bauchart E.;Blasco-Alonso J.;Brassier A.;Chakrapani A.;Chien Y.-H.;Couce M.L.;De Laet C.;De Lonlay P.;De Meirleir L.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;Gleich F.;Gradowska W.;Gr?Newald S.;Haege G.;H?Berle J.;Wuh-Liang Hwu;Ioannou H.;Lachmann R.;Langereis E.;Teles E.L.;L?Pez-Laso E.;Matsumoto S.;De Baulny H.O.;Ortez C.;Pe?A-Quintana L.;Ruiz-Gomez A.;Sarajlija A.;Summar M.L.;Thompson N.;Vara R.;Pinera I.V.;Williams M.;Zielonka M.;Additional Individual Contributors Of The E-Imd Consortium; Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; Chien Y.-H.; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; WUH-LIANG HWU; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium |
