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Clinical spectrum of the pseudotumor cerebri complex in children.
Tibussek D, Schneider DT, Vandemeulebroecke N, Turowski B, Messing-Juenger M, Willems PH, Mayatepek E, Distelmaier F. Tibussek D, et al. Among authors: distelmaier f. Childs Nerv Syst. 2010 Mar;26(3):313-21. doi: 10.1007/s00381-009-1018-0. Epub 2009 Nov 10. Childs Nerv Syst. 2010. PMID: 19902218
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H. Kremer LS, et al. Among authors: distelmaier f. Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616477 Free PMC article.
145 results