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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: ke yy. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan.
Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, Lin SP. Lin HY, et al. Among authors: ke yy. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S421-7. doi: 10.1007/s10545-010-9212-5. Epub 2010 Oct 6. J Inherit Metab Dis. 2010. PMID: 20924685
Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.
Su PH, Yu JS, Wu YZ, Tsai YS, Lo FS, Lin JL, Chao MC, Hsu CC, Ke YY, Chiu PC, Chen JC, Huang YH, Lin SP, Chou YY, Ting WH, Wang SY, Chiu CF, Huang YC, Hsiao HP, Lin CH, Wang CH, Bau DT, Lin CY. Su PH, et al. Among authors: ke yy. In Vivo. 2024 Jan-Feb;38(1):341-350. doi: 10.21873/invivo.13444. In Vivo. 2024. PMID: 38148081 Free PMC article.
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, Huang CK, Liu HC, Hsu TR, Lin SP, Yang CF, Fann CS, Chiu PC, Hsieh KS, Fu YC, Ke YY, Lin CY, Tsai FJ, Wang CH, Chao MC, Yu WC, Chiang CC, Niu DM. Liao HC, et al. Among authors: ke yy. Clin Chim Acta. 2013 Nov 15;426:114-20. doi: 10.1016/j.cca.2013.09.008. Epub 2013 Sep 19. Clin Chim Acta. 2013. PMID: 24055776 Free article.
Genotype and phenotype studies of Lowe syndrome in three families in Taiwan.
Chen KJ, Wu HR, Chao MC, Chang TM, Chien JW, Chen M, Ma GC, Ke YY. Chen KJ, et al. Among authors: ke yy. Pediatr Neonatol. 2021 May;62(3):327-328. doi: 10.1016/j.pedneo.2021.01.012. Epub 2021 Feb 6. Pediatr Neonatol. 2021. PMID: 33745830 Free article. No abstract available.
89 results