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

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

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology

Pharmacology, Toxicology and Pharmaceutical Science