학술논문
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'학술논문'
에서 검색결과 381건 | 목록
1~20
Academic Journal
Thimm, Eva; Riederer, Anselma; Vockley, Jerry; Dobbelaere, Dries; Williams, Monique; MacDonald, Anita; Dokoupil, Katharina; Schatz, Ulrich A.; Ensenauer, Regina
International Journal of Neonatal Screening. December, 2025, Vol. 11 Issue 4
Academic Journal
Moreau, Camille ; Paquot, Adrien ; Ares, Gustavo Soto ; Dessein, Anne-Frédérique ; Deprez, Benoit ; Beghyn, Terence ; Dobbelaere, Dries
In Molecular Genetics and Metabolism November 2024 143(3)
Academic Journal
Nikolas Boy; Chris Mühlhausen; Esther M. Maier; Diana Ballhausen; Matthias R. Baumgartner; Skadi Beblo; Peter Burgard; Kimberly A. Chapman; Dries Dobbelaere; Jana Heringer‐Seifert; Sandra Fleissner; Karina Grohmann‐Held; Gabriele Hahn; Inga Harting; Georg F. Hoffmann; Frank Jochum; Daniela Karall; Vassiliki Konstantopoulous; Michael B. Krawinkel; Martin Lindner; E. M. Charlotte Märtner; Jean‐Marc Nuoffer; Jürgen G. Okun; Barbara Plecko; Roland Posset; Katja Sahm; Sabine Scholl‐Bürgi; Eva Thimm; Magdalena Walter; Monique Williams; Stephan vom Dahl; Athanasia Ziagaki; Johannes Zschocke; Stefan Kölker
Journal of inherited metabolic disease, vol. 46, no. 3, pp. 482-519
Academic Journal
Ulrike Mütze; Florian Gleich; Ivo Barić; Mathias Baumgartner; Alberto Burlina; Kimberly A. Chapman; Yin‐Hsiu Chien; Elisenda Cortès‐Saladelafont; Corinne De Laet; Dries Dobbelaere; Francois Eysken; Matthias Gautschi; Rene Santer; Johannes Häberle; Clara Joaquín; Daniela Karall; Martin Lindner; Allan M. Lund; Chris Mühlhausen; Elaine Murphy; Dominique Roland; Angeles Ruiz Gomez; Anastasia Skouma; Sarah C. Grünert; Margreet Wagenmakers; Sven F. Garbade; Stefan Kölker; Nikolas Boy
J Inherit Metab Dis
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Journal of inherited metabolic disease
Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y H, Cortès-Saladelafont, E, De Laet, C,Dobbelaere , D, Eysken, F, Gautschi, M, Santer, R, Häberle, J, Joaquín, C, Karall, D, Lindner, M, Lund, A M, Mühlhausen, C, Murphy, E, Roland, D, Ruiz Gomez, A, Skouma, A, Grünert, S C, Wagenmakers, M, Garbade, S F, Kölker, S & Boy, N 2023, ' Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 220-231 . https://doi.org/10.1002/jimd.12572
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Journal of inherited metabolic disease
Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y H, Cortès-Saladelafont, E, De Laet, C,
Academic Journal
Scharre, Svenja; Posset, Roland; Garbade, Sven F.; Gleich, Florian; Seidl, Marie J.; Druck, Ann‐Catrin; Okun, Jürgen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Hoffmann, Georg F.; Kölker, Stefan; Zielonka, Matthias; Ah Mew, Nicholas; Baumgartner, Matthias R.; Berry, Gerard T.; Berry, Susan A.; Burrage, Lindsay; Diaz, George A.; Ficicioglu, Can; Kisin, Genya; Konczal, Laura; Lam, Christina; McCandless, Shawn E.; Merritt, J. Lawrence; Schulze, Andreas; Walter, Magdalena E.; Wilson, Ashley; Wong, Derek; Arnaudo, Florence; Augoustides‐ Savvopoulou, Persephone; Barić, Ivo; Bosch, Annet M.; Cano, Aline; Chien, Yin‐Hsiu; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Eyskens, Francois; Freisinger, Peter; Garcia‐Cazorla, Angeles; Honzik, Tomas; Karall, Daniela; Lund, Allan M.; Murphy, Elaine; Santer, René; Schiff, Manuel; Skouma, Anastasia; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Zeman, Jiri; for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, 'Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726. https://doi.org/10.1002/acn3.51668
Lund, A M & for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, 'Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726. https://doi.org/10.1002/acn3.51668
Lund, A M & for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668
Academic Journal
parenti, giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose’; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A. M. E.; Del Toro Riera, Mireja; Germain, Dominique P.; Huidekoper, Hidde; van den Hout, Johanna M. P.; van der Ploeg, Ans T.; and the MetabERN Subnetwork for Lysosomal Disorders; Baric, Ivo; Batzios, Spyros; Belmatoug, Nadia; Bordugo, Andrea; Bosch, Annet M.; Brassier, Anais; Burlina, Alberto; Cassiman, David; Chabrol, Brigitte; Chronopoulou, Efstathia; Couce-Pico, Maria Luz; Darin, Niklas; Das, Anibh M.; Debray, Francois G.; Deegan, Patrick; de Abreu Freire Diogo Matos, Luisa M.; De Las Heras Montero, Javier; Di Rocco, Maja; Dobbelaere, Dries; Eyskens, Francois; Ferreira, Ana; Gaspar, Ana M.; Gasperini, Serena; López, Antonio González-Meneses; Grosso, Salvatore; Guffon-Fouilhoux, Nathalie; Hennermann, Julia; Hiwot, Tarekegn G.; Jones, Simon; Kingma, Sandra; Komninaka, Veroniki; Martín-Hernández, Elena; Martins, Esmeralda; Miclea, Diana; Pfliegler, György; Rodrigues, Esmeralda; Rokicki, Dariusz; Roland, Dominique; Rutsch, Frank; Salviati, Alessandro; Tournev, Ivailo; Ullrich, Kurt; van Hasselt, Peter M.; Vijay, Suresh; Weinhold, Natalie; Witters, Peter; Zeman, Jiri
Orphanet J Rare Dis
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Academic Journal
Mew, Nicholas Ah ; Seminara, Jennifer ; Burrage, Lindsay C. ; Berry, Gerard T. ; Breilyn, Margo ; Schulze, Andreas ; Harding, Cary O. ; Berry, Susan A. ; Wong, Derek ; McCandless, Shawn E. ; Baumgartner, Matthias R. ; Konczal, Laura ; Ficicioglu, Can ; Diaz, George A. ; Coughlin, Curtis R., 2nd ; Enns, Gregory M. ; Gallagher, Renata C. ; Lam, Christina ; Stricker, Tamar ; Wilkening, Greta ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Blasco-Alonso, Javier ; Burlina, Alberto B. ; Freisinger, Peter ; van Hasselt, Peter M. ; Skouma, Anastasia ; Lund, Allan M. ; Vara, Roshni ; Sarajlija, Adrijan ; Morris, Andrew A. ; Chakrapani, Anupam ; Barić, Ivo ; Augoustides-Savvopoulou, Persephone ; Chien, Yin-Hsiu ; Cortès-Saladelafont, Elisenda ; Eyskens, Francois ; Gramer, Gwendolyn ; Zeman, Jiri ; Karall, Daniela ; Couce, Maria L. ; Mühlhausen, Chris ; Pedrón-Giner, Consuelo ; Spiekerkoetter, Ute ; Sykut-Cegielska, Jolanta ; Wagenmakers, Margreet ; Wijburg, Frits A. ; Posset, Roland ; Garbade, Sven F. ; Gleich, Florian ; Scharre, Svenja ; Okun, Jürgen G. ; Gropman, Andrea L. ; Nagamani, Sandesh C.S. ; Druck, Ann-Catrin ; Epp, Friederike ; Hoffmann, Georg F. ; Kölker, Stefan ; Zielonka, Matthias
In Genetics in Medicine April 2024 26(4)
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