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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: koul r. Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346. Brain. 2019. PMID: 30668673 Free PMC article.
Diaphragmatic Myoclonus.
Koul R, Alfutaisi A. Koul R, et al. Indian Pediatr. 2017 Apr 15;54(4):326. doi: 10.1007/s13312-017-1096-0. Indian Pediatr. 2017. PMID: 28474593 Free article. No abstract available.
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.
229 results