公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2018 | 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) | 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 | Journal of Inherited Metabolic Disease | 0 | 0 | |
2018 | 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.; 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.; 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 | Journal of Inherited Metabolic Disease | 2 | 0 | |
2021 | Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis | 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 | Journal of Inherited Metabolic Disease | 20 | 12 | |
2019 | Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD | Molecular Genetics and Metabolism | 26 | 20 | |
2019 | Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD | Journal of Inherited Metabolic Disease | 34 | 21 | |
2009 | Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study | Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN ; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.; Melone M.A.B.; Scarano G.; Aldamiz-Echevarria L.; Besley G.; Walter J.; Martinez-Hernandez E.; Hernandez J.M.; Pierri C.L.; Palmieri F.; Santorelli F.M. | Human Mutation | 59 | 47 | |
2022 | Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency | 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.; Ješina P.; Janssen M.C.H.; Kölker S.; Kožich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; E-HOD Consortium | Journal of Inherited Metabolic Disease | 8 | 5 | |
2020 | Long-term effects of medical management on growth and weight in individuals with urea cycle disorders | Posset R.; Garbade S.F.; Gleich F.; Gropman A.L.; de Lonlay P.; Hoffmann G.F.; Garcia-Cazorla A.; Nagamani S.C.S.; 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.; Le?o?Teles E.; Pedr?n-Giner C.; Lund A.M.; Dionisi-Vici C.; Williams M.; M?tze U.; Karall D.; Blasco-Alonso J.; Couce M.L.; Sykut-Cegielska J.; Augoustides-Savvopoulou P.; Ruiz?Gomez A.; Bari? I.; Schiff M.; YIN-HSIU CHIEN ; 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) | Scientific Reports | 15 | 7 | |
2019 | 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.; 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 | Journal of Inherited Metabolic Disease | 34 | 26 | |