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CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Among authors: lillquist y. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Alfadhel M, et al. Among authors: lillquist yp. Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21412973 Review.
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K. Stockler-Ipsiroglu S, et al. Among authors: lillquist y. Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3. Mol Genet Metab. 2015. PMID: 25497838 Free article.
19 results