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1دورية أكاديمية
المؤلفون: Labella Álvarez, F., Fernández-Ramos, J.A., Camino León, R., Ibarra de la Rosa, E., López Laso, E.
المصدر: Neurología ; volume 39, issue 2, page 105-116 ; ISSN 0213-4853
مصطلحات موضوعية: Neurology (clinical)
الإتاحة: https://doi.org/10.1016/j.nrl.2021.04.013Test
https://api.elsevier.com/content/article/PII:S0213485321000852?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0213485321000852?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Labella Álvarez, F., Fernández-Ramos, J.A., Camino León, R., Ibarra de la Rosa, E., López Laso, E.
المصدر: Neurología (English Edition) ; volume 39, issue 2, page 105-116 ; ISSN 2173-5808
مصطلحات موضوعية: Materials Chemistry
الإتاحة: https://doi.org/10.1016/j.nrleng.2024.01.004Test
https://api.elsevier.com/content/article/PII:S2173580824000208?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2173580824000208?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S., Sivri H. S., Yildiz Y., Assmann B., Kurian M. A., Leuzzi V., Heales S., Pope S., Porta F., Garcia-Cazorla A., Honzik T., Pons R., Regal L., Goez H., Artuch R., Hoffmann G. F., Horvath G., Thony B., Scholl-Burgi S., Burlina A., Verbeek M. M., Mastrangelo M., Friedman J., Wassenberg T., Jeltsch K., Kulhanek J., Kuseyri Hubschmann O.
المساهمون: Opladen, T., Lopez-Laso, E., Cortes-Saladelafont, E., Pearson, T. S., Sivri, H. S., Yildiz, Y., Assmann, B., Kurian, M. A., Leuzzi, V., Heales, S., Pope, S., Porta, F., Garcia-Cazorla, A., Honzik, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G. F., Horvath, G., Thony, B., Scholl-Burgi, S., Burlina, A., Verbeek, M. M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhanek, J., Kuseyri Hubschmann, O.
مصطلحات موضوعية: 6-pyruvoyltetrahydropterin synthase deficiency, BH, Consensus guideline, Dihydropteridine reductase deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, iNTD, Neurotransmitter, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, SIGN, Tetrahydrobiopterin deficiency
الوقت: 4
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32456656; info:eu-repo/semantics/altIdentifier/wos/WOS:000537854200002; volume:15; issue:1; numberofpages:30; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1471064Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085540040
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4دورية أكاديمية
المؤلفون: Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S., Sivri H. S., Yildiz Y., Assmann B., Kurian M. A., Leuzzi V., Heales S., Pope S., Porta F., Garcia-Cazorla A., Honzik T., Pons R., Regal L., Goez H., Artuch R., Hoffmann G. F., Horvath G., Thony B., Scholl-Burgi S., Burlina A., Verbeek M. M., Mastrangelo M., Friedman J., Wassenberg T., Jeltsch K., Kulhanek J., Kuseyri Hubschmann O.
المساهمون: Opladen, T., Lopez-Laso, E., Cortes-Saladelafont, E., Pearson, T. S., Sivri, H. S., Yildiz, Y., Assmann, B., Kurian, M. A., Leuzzi, V., Heales, S., Pope, S., Porta, F., Garcia-Cazorla, A., Honzik, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G. F., Horvath, G., Thony, B., Scholl-Burgi, S., Burlina, A., Verbeek, M. M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhanek, J., Kuseyri Hubschmann, O.
مصطلحات موضوعية: Tetrahydrobiopterin deficiency, BH4, Neurotransmitter, Guanosine triphosphate cyclohydrolase deficiency
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32758270; info:eu-repo/semantics/altIdentifier/wos/WOS:000560827200002; volume:15; issue:1; numberofpages:5; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1471035Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089171611
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5دورية أكاديمية
المؤلفون: Hübschmann, OK, Horvath, G, Cortès-Saladelafont, E, Yildiz, Y, Mastrangelo, M, Pons, R, Friedman, J, Mercimek-Andrews, S, Wong, S-N, Pearson, TS, Zafeiriou, D, Kulhánek, J, Kurian, MA, López-Laso, E, Oppebøen, M, Kilavuz, S, Wassenberg, T, Goez, H, Scholl-Bürgi, S, Porta, F, Honzík, T, Santer, R, Burlina, A, Sivri, HS, Leuzzi, V, Hoffmann, GF, Jeltsch, K, Hübschmann, D, Garbade, SF, García-Cazorla, A, Opladen, T
المصدر: Nature Communications , 12 , Article 5529. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135974/1/Kurian_s41467-021-25515-5.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135974Test/
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6دورية أكاديمية
المؤلفون: Keller, M, Brennenstuhl, H, Kuseyri Hübschmann, O, Manti, F, Julia Palacios, NA, Friedman, J, Yıldız, Y, Koht, JA, Wong, S-N, Zafeiriou, DI, López-Laso, E, Pons, R, Kulhánek, J, Jeltsch, K, Serrano-Lomelin, J, Garbade, SF, Opladen, T, Goez, H, International Working Group on Neurotransmitter related Disorder, Burlina, A, Cortès-Saladelafont, E, Fernández Ramos, JA, García-Cazorla, A, Hoffmann, GF, Kiat Hong, ST, Honzík, T, Kavecan, I, Kurian, MA, Leuzzi, V, Lücke, T, Manzoni, F, Mastrangelo, M, Mercimek-Andrews, S, Mir, P, Oppebøen, M, Pearson, TS, Sivri, HS, Steel, D, Stevanović, G, Fung, C-W
المصدر: Journal of Inherited Metabolic Disease , 44 (6) pp. 1489-1502. (2021)
مصطلحات موضوعية: Neurotransmitter deficiencies, behavioral phenotype, cognitive impairment, intelligence, quality of life, iNTD
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10131974/1/Kurian_jimd.12416.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10131974Test/
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7دورية أكاديمية
المؤلفون: Opladen, T, López-Laso, E, Cortès-Saladelafont, E, Pearson, TS, Sivri, HS, Yildiz, Y, Assmann, B, Kurian, MA, Leuzzi, V, Heales, S, Pope, S, Porta, F, García-Cazorla, A, Honzík, T, Pons, R, Regal, L, Goez, H, Artuch, R, Hoffmann, GF, Horvath, G, Thöny, B, Scholl-Bürgi, S, Burlina, A, Verbeek, MM, Mastrangelo, M, Friedman, J, Wassenberg, T, Jeltsch, K, Kulhánek, J, Kuseyri Hübschmann, O, International Working Group on Neurotransmitter related Disorder, .
المصدر: Orphanet Journal of Rare Diseases , 15 (1) , Article 126. (2020)
مصطلحات موضوعية: 6-pyruvoyltetrahydropterin synthase deficiency, (BH₄), Consensus guidelines, Dihydropteridine reductase deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, Neurotransmitter, SIGN, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, Tetrahydrobiopterin deficiency, iNTD
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10099255/1/Kurian_Consensus%20guideline%20for%20the%20diagnosis%20and%20treatment%20of%20tetrahydrobiopterin%20%28BH%E2%82%84%29%20deficiencies_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10099255Test/
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8دورية أكاديمية
المؤلفون: Marques, R, Belousoye, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Jansen, AC, Shinohara, N, LIorie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, AK, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMM, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Tich, SNT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Laberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahi, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R
المصدر: Frontiers in Neurology , 10 , Article 1144. (2019)
مصطلحات موضوعية: TSC, resource use, TOSCA, management, registry, rare diseases
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10086259/1/fneur-10-01144.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10086259Test/
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9دورية أكاديمية
المؤلفون: Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMH, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Sylvie, NTT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Dahlin, M, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahl, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R
المصدر: Frontiers in Neurology , 10 , Article 821. (2019)
مصطلحات موضوعية: mTOR, registry, SEGA, TOSCA, tuberous sclerosis complex
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10080432Test/
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10دورية أكاديمية
المؤلفون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann KH, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, McAlister, L, McCabe, A, McKie, M, McMahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S
المساهمون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M
مصطلحات موضوعية: Niemann-Pick disease type C, Miglustat, Registry
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26017010; info:eu-repo/semantics/altIdentifier/wos/WOS:000355918100001; volume:10; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11365/979373Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84931039342; http://www.ojrd.com/content/10/1/65Test
الإتاحة: https://doi.org/10.1186/s13023-015-0284-zTest
http://hdl.handle.net/11365/979373Test
http://www.ojrd.com/content/10/1/65Test
