PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
- 期刊名称Brain
- 作者Johnstone, Devon L; Al-Shekaili, Hilal H; Tarailo-Graovac, Maja; Wolf, Nicole I; Ivy, Autumn S; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo W T; Kernohan, Kristin D; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A; Olson, Heather; Sigurdardottir, Laufey Yr; Arnold, Georgianne L; Gerkes, Erica H; Boon, M; Heiner-Fokkema, M Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A; Kamsteeg, Erik-Jan; Drögemöller, Britt; Ross, Colin J; Majewski, Jacek; Cho, Megan T; Begtrup, Amber; Wasserman, Wyeth W; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M; Wevers, Ron A; van Faassen, Martijn; Kema, Ido P; Lepage, Nathalie; Lines, Matthew A; Dyment, David A; Wanders, Ronald J A; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M; Friedman, Jan M; Pena, Izabella A; van Karnebeek, Clara D M
- 印刷ISSN0006-8950
- 电子ISSN1460-2156
- 文件大小1573.02KB
- 发表时间2019-01-21
- DOI10.1093/brain/awy346
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