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1دورية أكاديمية
المؤلفون: Ng, BG, Eklund, EA, Shiryaev, SA, Dong, YY, Abbott, M-A, Asteggiano, C, Bamshad, MJ, Barr, E, Bernstein, JA, Chelakkadan, S, Christodoulou, J, Chung, WK, Ciliberto, MA, Cousin, J, Gardiner, F, Ghosh, S, Graf, WD, Grunewald, S, Hammond, K, Hauser, NS, Hoganson, GE, Houck, KM, Kohler, JN, Morava, E, Larson, AA, Liu, P, Madathil, S, McCormack, C, Meeks, NJL, Miller, R, Monaghan, KG, Nickerson, DA, Palculict, TB, Papazoglu, GM, Pletcher, BA, Scheffer, IE, Schenone, AB, Schnur, RE, Si, Y, Rowe, LJ, Russi, AHS, Russo, RS, Thabet, F, Tuite, A, Villanueva, MM, Wang, RY, Webster, R, Wilson, D, Zalan, A, Wolfe, LA, Rosenfeld, JA, Rhodes, L, Freeze, HH
العلاقة: Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M. -A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., Ciliberto, M. A., Cousin, J., Gardiner, F., Ghosh, S., Graf, W. D., Grunewald, S., Hammond, K. ,. Freeze, H. H. (2020). Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (6), pp.1333-1348. https://doi.org/10.1002/jimd.12290Test.; http://hdl.handle.net/11343/276107Test
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المؤلفون: Drelichman G, Fernández, Escobar N, Basack N, Aversa L, Kohan R, Watman N, Bolesina M, Elena G, Veber SE, Dragosky M, Annetta I, Feliu A, Sciuccati G, Cuello MF, Fynn A, Dodelson de Kremer R, Angaroni CJ, Giner-Ayala AN, Oller de Ramirez A, Guelbert NB, Delgado MA, Becerra A, Oliveri B, Larroudé MS, Masllorens FM, Szlago M, Schenone AB
المصدر: Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNCمصطلحات موضوعية: Enfermedad de Gaucher, Argentina, Enfermedad de depósito lisosomal
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3056::7d9edca45c5f72f737645efa569b0b1dTest
