Dirk Klee

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 Herebıan et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8

Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study

Daniel Tibussek, Christin Rademacher, Julian Caspers et al. · Radiology · 2017 · 92 citations

Neurocognitive outcome in patients with hypertyrosinemia type I after long‐term treatment with NTBC

Eva Thimm, Renate Richter‐Werkle, Gudrun Kamp et al. · Journal of Inherited Metabolic Disease · 2011 · 80 citations

Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degeneration

Markus N. Preising, Boris Görg, Christoph Friedburg et al. · The FASEB Journal · 2019 · 70 citations

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

Eva Thimm, Diran Herebıan, Birgit Assmann et al. · Molecular Genetics and Metabolism · 2010 · 55 citations

Tyrosinemia Type, Csf Tyrosine, Medicine +6