A Clinical Case with Pmm2-cdg and Dandy-walker Malformation
نویسنده
چکیده
M. Stancheva1, I. Kremenski2, M. Apostolova3 , J. Jaeken4, E. van Schaftingen5, G. Matthijs6, N. Ivanova3, V. Bojinova7, B. Radeva8, P. Perenovska1, K. Vladimirova2, R. Vajarova2 and D. Todorova7 1Department of Pediatrics, University Children`s Hospital “ Alexandrovska”, So a, Bulgaria 2National Genetic Laboratory, So a, Bulgaria 3Bulgarian Academy of Science, Laboratory for Medico-biological Research 4Center for Metabolic Disease, Katholieke Universiteit, BE-3000 Leuven, Belgium 5Laboratory of physiological Chemistry, Institute of Cellular Pathology and University of Louvain, Brussels, Belgium 6Center for Human Genetics, Katholieke Universiteit Leuven, BE-3000 Leuven, Belgium 7Department of Neurology, University Hospital of Neurology and Psychiatry, “Sv. Naum”, So a, Bulgaria 8Department of Pediatrics, University Children`s Hospital “Sv. Evdokia”, So a, Bulgaria
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تاریخ انتشار 2013