Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe Ahting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat Santra, Christine Makowski, Charlotte L Alston, Franz A Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch & Tobias B Haack
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