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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. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts.
Koul R, Al-Thihli K, Al-Azri F, Al-Futaisi A. Koul R, et al. Sultan Qaboos Univ Med J. 2013 Nov;13(4):585-6. Epub 2013 Nov 8. Sultan Qaboos Univ Med J. 2013. PMID: 24273671 Free PMC article. No abstract available.
Rigid Spine Syndrome among Children in Oman.
Koul R, Sankhla D, Al-Jahdhami S, Mani R, Rahim RA, Al-Yaarubi S, Al-Kindy H, Al-Thihli K, Al-Futaisi A. Koul R, et al. Sultan Qaboos Univ Med J. 2015 Aug;15(3):e364-9. doi: 10.18295/squmj.2015.15.03.010. Epub 2015 Aug 24. Sultan Qaboos Univ Med J. 2015. PMID: 26357557 Free PMC article.
Nonketotic Hyperglycinemia: Two Case Reports and Review.
Poothrikovil RP, Al Thihli K, Al Futaisi A, Al Murshidi F. Poothrikovil RP, et al. Neurodiagn J. 2019;59(3):142-151. doi: 10.1080/21646821.2019.1645549. Epub 2019 Aug 21. Neurodiagn J. 2019. PMID: 31433733
63 results