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1دورية أكاديمية
المؤلفون: Baric, I, Staufner, C, Augoustides-Savvopoulou, P, Chien, YH, Dobbelaere, D, Grunert, SC, Opladen, T, Ramadza, DP, Rakic, B, Wedell, A, Blom, HJ
المصدر: Journal of inherited metabolic disease. 40(1):5-20
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Naturvetenskap, Biologi (Medicinska tillämpningar under 3 och lantbruksvetenskapliga under 4), Biokemi och molekylärbiologi
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2دورية أكاديمية
المؤلفون: Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja)
المصدر: Scientific Reports vol. 10 no. 1
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/129092Test; urn:hdl:1765/129092
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3دورية أكاديمية
المؤلفون: 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
المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
المصدر: Molecular Genetics and Metabolism, (2019)
مصطلحات موضوعية: Genetics, Biochemistry, Molecular Biology, Endocrinology, Diabetes and Metabolism
العلاقة: boreal:214505; http://hdl.handle.net/2078.1/214505Test; urn:ISSN:1096-7192
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4دورية أكاديمية
المؤلفون: Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Baric, Ivo, Lund, Allan M., Koelker, Stefan, Williams, Monique, Hoerster, 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., Haberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Garcia Cazorla, A., Cortes i Saladelafont, E., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grunewald, S., Chakrapani, A., Hwu, W. -L., Chien, Y. -H., Lee, N. -C., Karall, D., Scholl-Buergi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Muehlhausen, C., Schiff, M., Pena-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, François, Lindner, M., Luesebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M. C.
المساهمون: E-IMD
المصدر: 0141-8955 ; Journal of inherited metabolic disease
مصطلحات موضوعية: Human medicine
وصف الملف: pdf
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000501809000013
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5دورية أكاديمية
المؤلفون: Huemer, M, Bürer, C, Ješina, P, Kožich, V, Landolt, M A, Suormala, T, Fowler, B, Augoustides-Savvopoulou, P, Blair, E, Brennerova, K, Broomfield, A, De Meirleir, L, Gökcay, G, Hennermann, J, Jardine, P, Koch, J, Lorenzl, S, Lotz-Havla, A S, Noss, J, Parini, R, Peters, H, Plecko, B, Ramos, F J, Schlune, A, Tsiakas, K, Zerjav Tansek, M, Baumgartner, M R
المصدر: Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.
مصطلحات موضوعية: Medical Clinic, Institute of Psychology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/104448/1/ZORA_NL_104448.pdfTest; info:pmid/25526710; urn:issn:0141-8955
الإتاحة: https://doi.org/10.5167/uzh-10444810.1007/s10545-014-9803-7Test
https://www.zora.uzh.ch/id/eprint/104448Test/
https://www.zora.uzh.ch/id/eprint/104448/1/ZORA_NL_104448.pdfTest -
6دورية أكاديمية
المؤلفون: Houten, S.M. (Sander M.), Te Brinke, H. (Heleen), Denis, S. (Simone), Ruiter, J.P.N. (Jos), Knegt, A.C. (Alida), Klerk, J.B.C. (Johannes) de, Augoustides-Savvopoulou, P. (Persa), Häberle, J. (Johannes), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Zschocke, J. (Johannes), Sass, J.O. (Jörn Oliver), Poll-The, B.T., Wanders, R.J.A. (Ronald), Duran, M. (Marinus)
المصدر: Orphanet Journal of Rare Diseases vol. 8 no. 1
مصطلحات موضوعية: Contiguous gene deletion syndrome, Hyperlysinemia, Inborn errors of metabolism, Lysine
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/61443Test; urn:hdl:1765/61443
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7دورية أكاديمية
المؤلفون: Ioannou, H.P., Fotoulaki, M., Augoustides-Savvopoulou, P.
المصدر: Journal of Cystic Fibrosis ; volume 11, page S114 ; ISSN 1569-1993
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/s1569-1993Test(12)60396-8
https://api.elsevier.com/content/article/PII:S1569199312603968?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199312603968?httpAccept=text/plainTest -
8دورية أكاديمية
المصدر: Journal of Cystic Fibrosis ; volume 8, page S88 ; ISSN 1569-1993
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/s1569-1993Test(09)60341-6
https://api.elsevier.com/content/article/PII:S1569199309603416?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199309603416?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Augoustides Savvopoulou, P., Zs, Luka, Luka, Z., Karyda, S., Stabler, S. P., Allen, R. H., Patsiaoura, K., Wagner, C., Mudd, S. H.
العلاقة: https://zenodo.org/record/1236020Test; https://doi.org/10.1023/b:boli.0000009978.17777.33Test; oai:zenodo.org:1236020
الإتاحة: https://doi.org/10.1023/b:boli.0000009978.17777.33Test
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10دورية
المؤلفون: 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, 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., 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.
المصدر: Genetics in Medicine; April 2024, Vol. 26 Issue: 4
