| 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
|
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 |
2020-12-18T02:21:50Z |
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
|
Hwu W.L.; Choy Y.S.; Ch'Ng G.S.; Keng W.T.; Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Hwu W.L.;Wang-Tso Lee;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; WANG-TSO LEE; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. |
| 臺大學術典藏 |
2020-12-18T02:21:50Z |
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
|
Hwu W.L.; Choy Y.S.; Ch'Ng G.S.; Keng W.T.; Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Hwu W.L.;Wang-Tso Lee;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; WANG-TSO LEE; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. |
| 臺大學術典藏 |
2020-12-18T02:21:40Z |
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
|
Opladen T.; Willemsen M.; Wassenberg T.;Molero-Luis M.;Jeltsch K.;Hoffmann G.F.;Assmann B.;Blau N.;Garcia-Cazorla A.;Artuch R.;Pons R.;Pearson T.S.;Leuzzi V.;Mastrangelo M.;Pearl P.L.;Wang-Tso Lee;Kurian M.A.;Heales S.;Flint L.;Verbeek M.;Willemsen M.;Opladen T.; Wassenberg T.; Molero-Luis M.; Jeltsch K.; Hoffmann G.F.; Assmann B.; Blau N.; Garcia-Cazorla A.; Artuch R.; Pons R.; Pearson T.S.; Leuzzi V.; Mastrangelo M.; Pearl P.L.; WANG-TSO LEE; Kurian M.A.; Heales S.; Flint L.; Verbeek M. |
| 臺大學術典藏 |
2020-12-18T02:21:40Z |
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
|
Opladen T.; Willemsen M.; Wassenberg T.;Molero-Luis M.;Jeltsch K.;Hoffmann G.F.;Assmann B.;Blau N.;Garcia-Cazorla A.;Artuch R.;Pons R.;Pearson T.S.;Leuzzi V.;Mastrangelo M.;Pearl P.L.;Wang-Tso Lee;Kurian M.A.;Heales S.;Flint L.;Verbeek M.;Willemsen M.;Opladen T.; Wassenberg T.; Molero-Luis M.; Jeltsch K.; Hoffmann G.F.; Assmann B.; Blau N.; Garcia-Cazorla A.; Artuch R.; Pons R.; Pearson T.S.; Leuzzi V.; Mastrangelo M.; Pearl P.L.; WANG-TSO LEE; Kurian M.A.; Heales S.; Flint L.; Verbeek M. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
|
Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Wuh-Liang Hwu;Lee W.T.;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU; Lee W.T.; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
|
Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Wuh-Liang Hwu;Lee W.T.;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU; Lee W.T.; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. |
| 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 |
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 |
2020-12-16T02:25:10Z |
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.;Mew N.A.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.E.;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.;Lawrence Merritt J.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeldadams J.;Wong D.;Yudkoff M.;Arnoux J.;BariĆI.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?Ssaladefont E.;Couce M.L.;Eyskens F.;De Laet C.;De Meirleir L.;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.;Sykutcegielska 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.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; 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.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; 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.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
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.;Mew N.A.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.E.;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.;Lawrence Merritt J.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeldadams J.;Wong D.;Yudkoff M.;Arnoux J.;BariĆI.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?Ssaladefont E.;Couce M.L.;Eyskens F.;De Laet C.;De Meirleir L.;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.;Sykutcegielska 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.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; 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.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; 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.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium |
