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pro vyhledávání: '"Kathrin Jeltsch"'
Autor:
René Santer, Oya Kuseyri Hübschmann, Tomas Honzik, Georg F. Hoffmann, Sven F. Garbade, Thomas Opladen, Jan Kulhánek, Toni S. Pearson, Elisenda Cortès-Saladelafont, Salvador Ibáñez, Dimitrios I. Zafeiriou, Kathrin Jeltsch, Mireia Olivella, Gabriella Horvath, M. Concepción García-Jiménez, Alice Kuster, Angeles Garcia-Cazorla, Philipp Guder, Natalia Alexandra Julia Palacios
Publikováno v:
SSRN Electronic Journal.
Background: Nonketotic hyperglycinemia (NKH) is a inherited neurometabolic disorder with variable clinical course and severity, in a spectrum ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterizat