المؤلفون: on Behalf of the E-IMD Consortium, Kölker, Stefan^Aff8, Dobbelaere, Dries^Aff9, Häberle, Johannes^Aff10, Burgard, Peter^Aff8, Gleich, Florian^Aff8, Summar, Marshall L.^Aff11, Hannigan, Steven^Aff12, Parker, Samantha^Aff13, Chakrapani, Anupam^Aff14, Baumgartner, Matthias R.^Aff10

المساهمون: Zschocke, Johannes, Editor-in-chief^{Aff1, Aff2}, Baumgartner, Matthias, editor^Aff3, Morava, Eva, editor^Aff4, Patterson, Marc, editor^Aff5, Rahman, Shamima, editor^Aff6, Peters, Verena, editor^Aff7

المصدر: JIMD Reports, Volume 22. 22:29-38

المؤلفون: Sekhar, Konjeti R., Long, Matthew, Long, John, Xu, Zhi-Qi, Summar, Marshall L., Freeman, Michael L.

المصدر: Radiation Research, 1997 May 01. 147(5), 592-597.

URL الوصول: https://www.jstor.org/stable/3579626

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المؤلفون: Kölker, Stefan, 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

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1041-1057

المؤلفون: Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1059-1074

المؤلفون: Li, Zejuan, Schonberg, Rhonda^{Aff2, Aff3}, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph^{Aff3, Aff5}, Summar, Marshall L^{Aff2, Aff3}, Vezina, Gilbert^{Aff3, Aff6}, Das, Soma, Chapman, Kimberly^{Aff2, Aff3}, del Gaudio, Daniela^Aff1

المصدر: Journal of Human Genetics. 60(7):363-369

المؤلفون: Owens, Sarah E., Summar, Marshall L., Ryckman, Kelli K., Haines, Jonathan L., Reiss, Sara, Summar, Samantha R., Aschner, Michael

المصدر: In Neurotoxicology December 2011 32(6):769-775

المؤلفون: Le, Truc M., Jiang, Haiyan, Cunningham, Gary R., Magarik, Jordan A., Barge, William S., Cato, Marilyn C., Farina, Marcelo, Rocha, Joao B.T., Milatovic, Dejan, Lee, Eunsook, Aschner, Michael, Summar, Marshall L.

المصدر: In Neurotoxicology October 2011 32(5):518-525

المؤلفون: 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

المساهمون: Pediatrics, Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), E-IMD

المصدر: Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M L, 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
Journal of Inherited Metabolic Disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease

مصطلحات موضوعية: Adult, Male, Ornithine, medicine.medical_specialty, Propionic Acidemia, Adolescent, organic acidurias, Protein metabolism, Ornithine transcarbamylase, amino acid mixtures, Gastroenterology, Reference Daily Intake, Young Adult, chemistry.chemical_compound, Valine, Internal medicine, Genetics, medicine, Humans, Hyperammonemia, dietary and supplemental treatment, Registries, Amino Acids, branched-chain amino acids, Child, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders, Inborn, Genetics (clinical), Retrospective Studies, L-citrulline and L-arginine, business.industry, urea-cycle disorders, Infant, Europe, Cross-Sectional Studies, Treatment Outcome, chemistry, Methylmalonic aciduria, Child, Preschool, Urea cycle, Dietary Supplements, Feasibility Studies, Female, Human medicine, Leucine, business

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89b7c01c485c59a8126f7cfff030cc7
https://doi.org/10.1002/jimd.12066

المؤلفون: Kölker, Stefan, 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

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2015 38(6):1155-1156