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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. Johnstone DL, et al. Among authors: wevers ra. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Jira PE, et al. Among authors: wevers ra. Ann Hum Genet. 2003 May;67(Pt 3):269-80. doi: 10.1046/j.1469-1809.2003.00034.x. Ann Hum Genet. 2003. PMID: 12914579 Review.
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP. Simon A, et al. Among authors: wevers ra. Neurology. 2004 Mar 23;62(6):994-7. doi: 10.1212/01.wnl.0000115390.33405.f7. Neurology. 2004. PMID: 15037710
529 results