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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P. Horn D, et al. Among authors: baric i. Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129430 Free PMC article.
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: baric i. 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.
177 results