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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C; DDD Study,; Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Gauquelin L, et al. Among authors: fung el. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Thiffault I, et al. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. Nat Commun. 2015. PMID: 26151409 Free PMC article.
Diagnosing Wilson's disease in a 5-year-old child.
Hui J, Fung EL, Tang NL, Chan MH, To KF, Fok TF. Hui J, et al. Among authors: fung el. J Paediatr Child Health. 2002 Aug;38(4):412-3. doi: 10.1046/j.1440-1754.2002.00023.x. J Paediatr Child Health. 2002. PMID: 12174008 No abstract available.
Update to the Hong Kong Epilepsy Guideline: evidence-based recommendations for clinical management of women with epilepsy throughout the reproductive cycle.
Chang RSK, Lui KHK, Ip W, Yeung E, Yung AWY, Leung H, Fung ELW, Fung BBH, Chan ELY, Poon TL, Wong HT, Siu D, Cheng K, Zhu CXL, Fong GCY, Chu J, Lui CHT, Yau M. Chang RSK, et al. Among authors: fung elw. Hong Kong Med J. 2020 Oct;26(5):421-431. doi: 10.12809/hkmj198367. Hong Kong Med J. 2020. PMID: 33089787 Free article.
Oligohydrosis and topiramate.
Fung EL, Nelson EA. Fung EL, et al. Pediatr Neurol. 2006 Dec;35(6):446. doi: 10.1016/j.pediatrneurol.2006.08.012. Pediatr Neurol. 2006. PMID: 17138020 No abstract available.
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Chan SHS, Lo IFM, Cherk SWW, Cheng WW, Fung ELW, Yeung WL, Ngan M, Lee WC, Kwong L, Wong SN, Ma CK, Tai SM, Ng GSF, Wu SP, Wong VCN. Chan SHS, et al. Child Neurol Open. 2015 May 26;2(2):2329048X15585345. doi: 10.1177/2329048X15585345. eCollection 2015 Apr-Jun. Child Neurol Open. 2015. PMID: 28503591 Free PMC article.
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