NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A. Mayr, Ivo BaricFelix Distelmaier, Holger Prokisch

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Keyphrases

Neuroscience

Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology