PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon Johnstone, Hilal Al-Shekaili, Maja Tarailo-Graovac, Nicole Wolf, Autumn Ivy, Scott Demarest, Yann Roussel, Jolita Ciapaite, Carlo van Roermund, Kristin Kernohan, Ceres Kosuta, Kevin Ban, Yoko Ito, Skye McBride, Khalid Al-Thihli, Rana Abdelrahim, Roshan Koul, Amna Al Futaisi, Charlotte Haaxma, Heather Olson, Laufey Yr Sigurdardottir, Georgianne Arnold, Erica Gerkes, M Boon, M Heiner-Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David Koolen, Erik-Jan Kamsteeg, Britt Drögemöller, Colin Ross, Jacek Majewski, Megan Cho, Amber Begtrup, Wyeth Wasserman, Tuan Bui, Elise Brimble, Sara Violante, Sander Houten, Ron Wevers, Martijn van Faassen, Ido Kema, Nathalie Lepage, Care4Rare Canada Consortium, Matthew Lines, David Dyment, Ronald Wanders, Nanda Verhoeven-Duif, Marc Ekker, Kym Boycott, Jan Friedman, Izabella Pena, Clara van Karnebeek