학술논문
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'학술논문'
에서 검색결과 1,142건 | 목록
1~20
Academic Journal
Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Lund, Allan M.; Rizopoulos, Dimitris; Kölker, Stefan; Williams, Monique; Hörster, 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.; Häberle, J.; Blasco-Alonso, J.; Burlina, A.B.; Rubert, L.; Cazorla, A. Garcia; Saladelafont, E. Cortes I.; Dionisi-Vici, C.; Martinelli, D.; Dobbelaere, D.; Mention, K.; Grünewald, S.; Chakrapani, A.; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Karall, D.; Scholl-Bürgi, S.; De Laet, C.; Matsumoto, S.; de Meirleir, L.; Schiff, M.; Peña-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.; Lüsebrink, N.; Jalan, A.; Sokal, E.; Legros, V.; Nassogne, M.C.; Barić, I.; Sokal, Etienne; ET ALL
Molecular Genetics and Metabolism [ISSN 1096-7192], v. 126 (4), p. 397-405 (Abril 2019)
accedaCRIS portalde investigación de la Universidad de las Palmas de Gran Canaria
instname
Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, ML , Chapman, K A, Lund, A M, Rizopoulos, D, Kölker, S, Williams, M, Hörster, 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, Häberle, 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, Grünewald, S, Chakrapani, A, Hwu, W-L , Chien, Y-H, Lee, N-C, Karall, D, Scholl-Bürgi, S, de Laet, C, Matsumoto, S, de Meirleir , L , Schiff, M, Peña-Quintana, L , Djordjevic, M, Sarajlija, A, Sykut-Cegielska, J, Wisniewska, A, Leao-Teles, E, Alves, S, Additional individual contributors from E-IMD, Wijburg, F A, Vara, R, Vives Piñera, I, Gil-Ortega, D, Morris, A, Zeman, J, Honzik, T, Chabrol, B, Arnaudo, F, Cano, A, Thompson, N, Eyskens, F, Lindner, M, Lüsebrink, N, Jalan, A, Sokal, E, Legros, V, Nassogne, M-C & Barić, I 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', Molecular Genetics and Metabolism, vol. 126, no. 4, pp. 397-405. https://doi.org/10.1016/j.ymgme.2019.02.003
Molecular Genetics and Metabolism, (2019)
Molecular genetics and metabolism, Vol. 126, no. 4, p. 397-405 (2019)
Molecular genetics and metabolism
accedaCRIS portal
instname
Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M
Molecular Genetics and Metabolism, (2019)
Molecular genetics and metabolism, Vol. 126, no. 4, p. 397-405 (2019)
Molecular genetics and metabolism
Academic Journal
Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Barić, Ivo; Lund, Allan M.; Kölker, Stefan; Williams, Monique; Hörster, 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.; Häberle, J.; Blasco‐ Alonso, J.; Burlina, A.B.; Rubert, L.; Cazorla, A. Garcia; Saladelafont, E. Cortes i; Dionisi‐ Vici, C.; Martinelli, D.; Dobbelaere, D.; Mention, K.; Grünewald, S.; Chakrapani, A.; Hwu, Wuh‐Liang; Chien, Yin‐Hsiu; Lee, Ni‐Chung; Karall, D.; Scholl‐Bürgi, S.; Lachmann, R.; De Laet, C.; Matsumoto, S.; de Meirleir, L.; Mühlhausen, C.; Schiff, M.; Peña‐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.; Lüsebrink, N.; Jalan, A.; Sokal, E.; Legros, V.; Nassogne, M.C.; Additional individual contributors from E‐IMD
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname
Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, ML , Chapman, K A, Barić, I, Lund, A M, Kölker, S, Williams, M & Additional individual contributors from E-IMD 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', Journal of Inherited Metabolic Disease, vol. 42, no. 6, pp. 1162-1175. https://doi.org/10.1002/jimd.12066
instname
Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M
Academic Journal
Heard, J-M; Bellettato, C; van, Lingen C; Scarpa, M; Debray, F-G; Nassogne, M-C; van, Coster R; De, Meirleir L; Eyskens, F; Morava, E
ORPHANET JOURNAL OF RARE DISEASES. 14(1)
Academic Journal
Tijdschrift voor Geneeskunde. :880-888
Academic Journal
Groeneweg, S; Peeters, RP; Moran, C; Stoupa, MA; Auriol, F; Tonduti, D; Dica, A; Paone, L; Rozenkova, K; Malikova, J; van der Walt, A; de Coo, IFM; McGowan, A; Lyons, G; Aarsen, RFK; Barca, PD; van Beynu, IM; van der Knoop, MM; Jansen, J; Manshande, M; Lunsing, RJ; Nowak, S; den Uil, CA; Zillikens, MC; Visser, FE; Vrijoeth, P; de Wit, MCY; Wolf, NI; Zandstra, A; Abegaonkar, G; Singh, Y; de Rijke, YB; Medici, M; Bertini, ES; Depoorter, S; Lebl, J; Cappa, M; De Meirleir, L; Krude, H; Craiu, D; Zibordi, F; Petit, IO; Polak, M; Chatterjee, K; Visser, TJ; Visser, WE
Groeneweg, S, Peeters, R P, Moran, C, Stoupa, A, Auriol, F, Tonduti, D, Dica, A, Paone, L , Rozenkova, K, Malikova, J, van der Walt, A, de Coo, I F M, McGowan, A, Lyons, G, Aarsen, F K, Barca, D, van Beynum, I M, van der Knoop, M M, Jansen, J, Manshande, M, Lunsing, R J, Nowak, S, den Uil, C A, Zillikens, M C, Visser, F E, Vrijmoeth, P, de Wit, M C Y, Wolf, N I, Zandstra, A, Ambegaonkar, G, Singh, Y, de Rijke, Y B, Medici, M, Bertini, E S, Depoorter, S, Lebl, J, Cappa, M, de Meirleir , L , Krude, H, Craiu, D, Zibordi, F, Oliver Petit, I, Polak, M, Chatterjee, K, Visser, T J & Visser, W E 2019, 'Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial', The Lancet Diabetes and Endocrinology, vol. 7, no. 9, pp. 695-706. https://doi.org/10.1016/S2213-8587(19)30155-X
Lancet Diabetes & Endocrinology, 7, 9, pp. 695-706
Lancet Diabetes & Endocrinology, 7, 9, pp. 695-706
Conference
Mastantuono, E; Repp, B; Alston, CL; Schiff, M; Haack, TB; Rotig, A; Ardissone, A; Lombes, A; Catarino, CB; Diodato, D; Schottmann, G; Poulton, J; Burlina, A; Jonckheere, A; Munnich, A; Ghezzi, D; Rokicki, D; Wellesley, D; Martinelli, D; Lamantea, E; Ostergaard, E; Pronicka, E; Pierre, G; Smeets, HJ; Scurr, I; De Coo, IF; Moroni, I; Smet, J; Mayr, JA; De Meirleir, L; Schuelke, M; Zeviani, M; McFarland, R; Seneca, S; Klopstock, T; Meitinger, T; Strom, TM; Herberg, U; Sperl, W; Nassogne, M; Ling, H; Fang, F; Freisinger, P; Van Coster, R; Taylor, RW; Haberle, J; Vockley, J; Prokisch, H; Wortmann, S
Academic Journal
Kölker, Stefan; Garcia-Cazorla, Angeles; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides-Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco-Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; I Saladelafont, Elisenda Cortès; Couce, Maria L.; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; de Baulny, Hélène Ogier; Ortez, Carlos; Peña-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; Summar, Marshall L.; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H.; Williams, Monique; Burgard, Peter
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucionalde Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joande Déu
Journal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38, p. 1041-1057 8Abril 2015)
accedaCRIS portalde investigación de la Universidad de las Palmas de Gran Canaria
instname
r-FSJD. Repositorio Institucionalde Producción Científica de la Fundació Sant Joan de Déu
Journal of inherited metabolic disease
r-FSJD: Repositorio Institucional
Fundació Sant Joan
Journal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38, p. 1041-1057 8Abril 2015)
accedaCRIS portal
instname
r-FSJD. Repositorio Institucional
Journal of inherited metabolic disease
Academic Journal
Meulemans, Ann ; Seneca, Sara ; Pribyl, Thomas ; Smet, Joel ; Alderweirldt, Valerie ; Waeytens, Anouk ; Lissens, Willy ; Van Coster, Rudy ; De Meirleir, Linda ; di Rago, Jean-Paul ; Gatti, Domenico L. ; Ackerman, Sharon H.
In Journal of Biological Chemistry 5 February 2010 285(6):4099-4109
Academic Journal
Arbuckle, Jesse H.; Medveczky, Maria M.; Luka, Janos; Hadley, Stephen H.; Luegmayr, Andrea; Ablashi, Dharam; Lund, Troy C.; Tolar, Jakub; De Meirleir, Kenny; Montoya, Jose G.; Komaroff, Anthony L.; Ambros, Peter F.; Medveczky, Peter G.; Kieff, Elliott
Proceedings of the National Academy of Sciences of the United States of America, 2010 Mar . 107(12), 5563-5568.
Academic Journal
Emmanuel Scalais; Elise Osterheld; Christine Geron; Charlotte Pierron; Ronit Chafai; Vincent Schlesser; Patricia Borde; Luc Regal; Hilde Laeremans; Koen L. I. vanGassen; L. Bert van denHeuvel; Linda De Meirleir
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
Academic Journal
Sofou, K; de, Coo IFM; Ostergaard, E; Isohanni, P; Naess, K; De, Meirleir L; Tzoulis, C; Uusimaa, J; Lonnqvist, T; Bindoff, LA
JOURNAL OF MEDICAL GENETICS. 55(1):21-27
Academic Journal
Birgit M. Repp; Elisa Mastantuono; Charlotte L. Alston; Manuel Schiff; Tobias B. Haack; Agnes Rötig; Anna Ardissone; Anne Lombès; Claudia B. Catarino; Daria Diodato; Gudrun Schottmann; Joanna Poulton; Alberto Burlina; An Jonckheere; Arnold Munnich; Boris Rolinski; Daniele Ghezzi; Dariusz Rokicki; Diana Wellesley; Diego Martinelli; Ding Wenhong; Eleonora Lamantea; Elsebet Ostergaard; Ewa Pronicka; Germaine Pierre; Hubert J. M. Smeets; Ilka Wittig; Ingrid Scurr; Irenaeus F. M. de Coo; Isabella Moroni; Joél Smet; Johannes A. Mayr; Lifang Dai; Linda de Meirleir; Markus Schuelke; Massimo Zeviani; Raphael J. Morscher; Robert McFarland; Sara Seneca; Thomas Klopstock; Thomas Meitinger; Thomas Wieland; Tim M. Strom; Ulrike Herberg; Uwe Ahting; Wolfgang Sperl; Marie-Cecile Nassogne; Han Ling; Fang Fang; Peter Freisinger; Rudy Van Coster; Valentina Strecker; Robert W. Taylor; Johannes Häberle; Jerry Vockley; Holger Prokisch; Saskia Wortmann
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Academic Journal
Maas, R. R.; Iwanicka-Pronicka, K.; Kalkan Ucar, S.; Alhaddad, B.; AlSayed, M.; Al-Owain, M. A.; Al-Zaidan, H. I.; Balasubramaniam, S.; Barić, I.; Bubshait, D. K.; Burlina, A.; Christodoulou, J.; Chung, W. K.; Colombo, R.; Darin, Niklas, 1964; Freisinger, P.; Garcia Silva, M. T.; Grunewald, S.; Haack, T. B.; van Hasselt, P. M.; Hikmat, O.; Hörster, F.; Isohanni, P.; Ramzan, K.; Kovacs-Nagy, R.; Krumina, Z.; Martin-Hernandez, E.; Mayr, J. A.; McClean, P.; De Meirleir, L.; Naess, K.; Ngu, L. H.; Pajdowska, M.; Rahman, S.; Riordan, G.; Riley, L.; Roeben, B.; Rutsch, F.; Santer, R.; Schiff, M.; Seders, M.; Sequeira, S.; Sperl, W.; Staufner, C.; Synofzik, M.; Taylor, R. W.; Trubicka, J.; Tsiakas, K.; Unal, O.; Wassmer, E.; Wedatilake, Y.; Wolff, T.; Prokisch, H.; Morava, E.; Pronicka, E.; Wevers, R. A.; de Brouwer, A. P.; Wortmann, S. B.
Annals of Neurology. 82(6):1004-1015
Academic Journal
Kenny L. De Meirleir; Tatjana Mijatovic; Krishnamurthy Subramanian; Karen A. Schlauch; Vincent C. Lombardi
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-8 (2018)
Academic Journal
Quijano-Roy, S.; Mbieleu, B.; Bönnemann, C.; Jeannet, P.; Colomer, J.; Clarke, N.; Cuisset, J.; Roper, H.; De Meirleir, L.; D’Amico, A.; Ben Yaou, R.; Barois, A.; Demay, L.; Romero, N.; Sewry, C.; Bertini, E.; Ferreiro, A.; Muntoni, F.; Guicheney, P.; Richard, P.; Bonne, G.; Estournet, B.
Neuromuscular Disorders. 17(9):797-798
Academic Journal
Meneret A; Depienne C; Riant F; Trouillard O; Bouteiller D; Cincotta M; Bitoun P; Wickert J; Lagroua I; Westenberger A; Borgheresi A; Doummar D; Romano M; Rossi S; Defebvre L; De Meirleir L; Espay AJ; Fiori S; Klebe S; Quelin C; Rudnik-Schoneborn S; Plessis G; Dale RC; Brooks SS; Dziezyc K; Pollak P; Golmard JL; Vidailhet M; Brice A; Roze E
Neurology. 82:1999-2002
Academic Journal
De Bruyn, Caroline; Tim, Vanderhasselt; Tanyalcin, Ibrahim; Keymolen, Kathelijn; Van Rompaey, Katrijn; De Meirleir, L.; Jansen, Anna
European Journal of Paediatric Neurology. 18:420-426
Academic Journal
Jansen, A C; Oostra, A; Desprechins, B; De Vlaeminck, Y; Verhelst, H; Régal, L; Verloo, P; Bockaert, N; Keymolen, Kathelijn; Seneca, S; De Meirleir, L; Lissens, W
Neurology. 76:988-992
Academic Journal
Quintana, E.; Gort, L.; Busquets, C.; Navarro-Sastre, A.; Lissens, Willy; Moliner, S.; Lluch, M.; Vilaseca, Ma.; De Meirleir, Linda; Ribes, A.; Briones, Paz
CLINICAL GENETICS
r-FSJD. Repositorio Institucionalde Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joande Déu
r-FSJD. Repositorio Institucional
Fundació Sant Joan
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