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Items: 48

1.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

Yu MH, Tsang MH, Lai S, Ho MS, Tse DML, Willis B, Kwong AK, Chou YY, Lin SP, Quinzii CM, Hwu WL, Chien YH, Kuo PL, Chan VC, Tsoi C, Chong SC, Rodenburg RJT, Smeitink J, Mak CC, Yeung KS, Fung JL, Lam W, Hui J, Lee NC, Fung CW, Chung BH.

NPJ Genom Med. 2019 Aug 5;4:18. doi: 10.1038/s41525-019-0091-x. eCollection 2019.

2.

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

Kwong AK, Chu VL, Rodenburg RJT, Smeitink J, Fung CW.

Brain Dev. 2019 Jul 16. pii: S0387-7604(19)30180-9. doi: 10.1016/j.braindev.2019.07.003. [Epub ahead of print]

PMID:
31324350
3.

Dietary fatty acids promote lipid droplet diversity through seipin enrichment in an ER subdomain.

Cao Z, Hao Y, Fung CW, Lee YY, Wang P, Li X, Xie K, Lam WJ, Qiu Y, Tang BZ, Shui G, Liu P, Qu J, Kang BH, Mak HY.

Nat Commun. 2019 Jul 1;10(1):2902. doi: 10.1038/s41467-019-10835-4.

4.

A fatal case of COQ7-associated primary coenzyme Q10 deficiency.

Kwong AK, Chiu AT, Tsang MH, Lun KS, Rodenburg RJT, Smeitink J, Chung BH, Fung CW.

JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May.

5.

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.

Tsang MH, Leung GK, Ho AC, Yeung KS, Mak CC, Pei SL, Yu MH, Kan AS, Chan KY, Kwong KL, Lee SL, Yung AW, Fung CW, Chung BH.

Epilepsia Open. 2018 Dec 6;4(1):63-72. doi: 10.1002/epi4.12282. eCollection 2019 Mar.

6.

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.

Fung JLF, Tsang MHY, Leung GKC, Yeung KS, Mak CCY, Fung CW, Chan SHS, Yu MHC, Chung BHY.

Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17.

PMID:
30670339
7.

Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivors.

Tso WWY, Liu APY, Lee TMC, Cheuk KL, Shing MK, Luk CW, Ling SC, Ku DTL, Li K, Yung AWY, Fung CW, Chan SHS, Ho ACC, Ho FKW, Ip P, Chan GCF.

J Neurooncol. 2019 Jan;141(2):393-401. doi: 10.1007/s11060-018-03045-3. Epub 2018 Nov 20.

PMID:
30460632
8.

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC, Leung GK, Mok GT, Yeung KS, Yang W, Fung CW, Chan SH, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BH.

NPJ Genom Med. 2018 Aug 6;3:19. doi: 10.1038/s41525-018-0056-5. eCollection 2018.

9.

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.

Fung CW, Kwong AK, Wong VC.

Epilepsia Open. 2017 May 4;2(2):236-243. doi: 10.1002/epi4.12055. eCollection 2017 Jun.

10.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ.

Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21.

PMID:
28671271
11.

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.

Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY.

Mol Autism. 2017 Jun 26;8:31. doi: 10.1186/s13229-017-0136-x. eCollection 2017.

12.

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F.

Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.

13.

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L.

J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936.

PMID:
28444691
14.

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J.

Mitochondrion. 2017 Jan;32:36-41. doi: 10.1016/j.mito.2016.11.008. Epub 2016 Nov 16.

PMID:
27865797
15.

International Paediatric Mitochondrial Disease Scale.

Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM.

J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. Erratum in: J Inherit Metab Dis. 2017 May;40(3):463.

16.

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA.

EMBO Mol Med. 2016 Apr 1;8(4):311-27. doi: 10.15252/emmm.201506131. Review.

17.

Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong.

Wong VC, Fung CW, Lee SL, Wong PT.

Sci China Life Sci. 2015 Oct;58(10):991-1009. doi: 10.1007/s11427-012-4294-y. Review.

PMID:
26335731
18.

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

Lam CW, Law CY, Siu WK, Fung CW, Yau MM, Huen KF, Lee HH, Mak CM.

Clin Chim Acta. 2015 Aug 25;448:211-4. doi: 10.1016/j.cca.2015.06.028. Epub 2015 Jul 11.

PMID:
26169155
19.

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

Kwong AK, Ho AC, Fung CW, Wong VC.

PLoS One. 2015 May 7;10(5):e0126446. doi: 10.1371/journal.pone.0126446. eCollection 2015.

20.

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.

Wong VC, Fung CW, Kwong AK.

Brain Dev. 2015 Aug;37(7):729-32. doi: 10.1016/j.braindev.2014.10.008. Epub 2014 Nov 7.

PMID:
25459969
21.

Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

Tso WW, Kwong AK, Fung CW, Wong VC.

Pediatr Neurol. 2014 Feb;50(2):177-80. doi: 10.1016/j.pediatrneurol.2013.10.006. Epub 2013 Oct 24.

PMID:
24315539
22.

Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome.

Ho AC, Fung CW, Siu TS, Ma OC, Lam CW, Tam S, Wong VC.

JIMD Rep. 2014;12:129-34. doi: 10.1007/8904_2013_255. Epub 2013 Oct 20.

23.

COG5-CDG with a Mild Neurohepatic Presentation.

Fung CW, Matthijs G, Sturiale L, Garozzo D, Wong KY, Wong R, Wong V, Jaeken J.

JIMD Rep. 2012;3:67-70. doi: 10.1007/8904_2011_61. Epub 2011 Sep 22.

24.

COG5-CDG: expanding the clinical spectrum.

Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J.

Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Erratum in: Orphanet J Rare Dis. 2013;8:120.

25.

Arginase deficiency with new phenotype and a novel mutation: contemporary summary.

Tsang JP, Poon WL, Luk HM, Fung CW, Ching CK, Mak CM, Lam CW, Siu TS, Tam S, Wong VC.

Pediatr Neurol. 2012 Oct;47(4):263-9. doi: 10.1016/j.pediatrneurol.2012.06.012.

PMID:
22964440
26.

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.

27.

Nephrological abnormalities in patients with transaldolase deficiency.

Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Fung CW, Valayannopoulos V, Bökenkamp A.

Nephrol Dial Transplant. 2012 Aug;27(8):3224-7. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17.

PMID:
22510381
28.

KBG syndrome: clinical features and specific dental findings.

Almandey AH, Anthonappa RP, King NM, Fung CW.

Pediatr Dent. 2010 Sep-Oct;32(5):439-44.

PMID:
21070713
29.

Anti-NMDA receptor encephalitis with atypical brain changes on MRI.

Chan SH, Wong VC, Fung CW, Dale RC, Vincent A.

Pediatr Neurol. 2010 Oct;43(4):274-8. doi: 10.1016/j.pediatrneurol.2010.05.004.

PMID:
20837307
30.

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

Yeung WL, Wong VC, Chan KY, Hui J, Fung CW, Yau E, Ko CH, Lam CW, Mak CM, Siu S, Low L.

J Child Neurol. 2011 Feb;26(2):179-87. doi: 10.1177/0883073810377014. Epub 2010 Sep 7. Erratum in: J Child Neurol. 2012 Jun;27(6):829-31.

PMID:
20823027
31.

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

Mak CM, Lam CW, Siu TS, Chan KY, Siu WK, Yeung WL, Hui J, Wong VC, Low LC, Ko CH, Fung CW, Chen SP, Yuen YP, Lee HC, Yau E, Chan B, Tong SF, Tam S, Chan YW.

Mol Genet Metab. 2010 Apr;99(4):431-3. doi: 10.1016/j.ymgme.2009.12.011. Epub 2009 Dec 21.

PMID:
20056467
32.

Suppression of the double-strand-break-repair defect of the Saccharomyces cerevisiae rad57 mutant.

Fung CW, Mozlin AM, Symington LS.

Genetics. 2009 Apr;181(4):1195-206. doi: 10.1534/genetics.109.100842. Epub 2009 Feb 2.

33.

Role of the Saccharomyces cerevisiae Rad51 paralogs in sister chromatid recombination.

Mozlin AM, Fung CW, Symington LS.

Genetics. 2008 Jan;178(1):113-26. doi: 10.1534/genetics.107.082677.

34.

Health-related quality of life of children with epilepsy in Hong Kong: how does it compare with that of youth with epilepsy in Canada?

Yam WK, Ronen GM, Cherk SW, Rosenbaum P, Chan KY, Streiner DL, Cheng SW, Fung CW, Ho JC, Kwong KL, Ma LC, Ma DK, Tsui KW, Wong V, Wong TY.

Epilepsy Behav. 2008 Apr;12(3):419-26. Epub 2007 Dec 26.

PMID:
18158271
35.

Real-time rolling circle amplification for protein detection.

Yang L, Fung CW, Cho EJ, Ellington AD.

Anal Chem. 2007 May 1;79(9):3320-9. Epub 2007 Mar 23.

PMID:
17378540
36.

The rad51-K191R ATPase-defective mutant is impaired for presynaptic filament formation.

Fung CW, Fortin GS, Peterson SE, Symington LS.

Mol Cell Biol. 2006 Dec;26(24):9544-54. Epub 2006 Oct 9.

37.

Stiff child syndrome with mutation of DYT1 gene.

Wong VC, Lam CW, Fung CW.

Neurology. 2005 Nov 8;65(9):1465-6.

PMID:
16275837
38.

tRNA-linked molecular beacons for imaging mRNAs in the cytoplasm of living cells.

Mhlanga MM, Vargas DY, Fung CW, Kramer FR, Tyagi S.

Nucleic Acids Res. 2005 Apr 4;33(6):1902-12. Print 2005.

39.

Topiramate-valproate-induced hyperammonemic encephalopathy syndrome: case report.

Cheung E, Wong V, Fung CW.

J Child Neurol. 2005 Feb;20(2):157-60.

PMID:
15794187
40.

Program for Chinese children with developmental disabilities--the Hong Kong model.

Fung CW, Wong V.

Brain Dev. 2005 Mar;27(2):141-7. Review.

PMID:
15668055
41.

Spectrum of anticonvulsant hypersensitivity syndrome: controversy of treatment.

Lee WC, Leung JL, Fung CW, Chung BH, Wong V.

J Child Neurol. 2004 Aug;19(8):619-23.

PMID:
15605473
42.

A modified screening tool for autism (Checklist for Autism in Toddlers [CHAT-23]) for Chinese children.

Wong V, Hui LH, Lee WC, Leung LS, Ho PK, Lau WL, Fung CW, Chung B.

Pediatrics. 2004 Aug;114(2):e166-76.

PMID:
15286253
43.

Crystal structure of a Rad51 filament.

Conway AB, Lynch TW, Zhang Y, Fortin GS, Fung CW, Symington LS, Rice PA.

Nat Struct Mol Biol. 2004 Aug;11(8):791-6. Epub 2004 Jul 4.

PMID:
15235592
44.

Video-fluoroscopic study of swallowing in children with neurodevelopmental disorders.

Fung CW, Khong PL, To R, Goh W, Wong V.

Pediatr Int. 2004 Feb;46(1):26-30.

PMID:
15043660
45.

Lead poisoning after ingestion of home-made Chinese medicines.

Fung HT, Fung CW, Kam CW.

Emerg Med (Fremantle). 2003 Oct-Dec;15(5-6):518-20.

PMID:
14992070
46.

Accurate quantification of right ventricular mass at MR imaging by using cine true fast imaging with steady-state precession: study in dogs.

Shors SM, Fung CW, François CJ, Finn JP, Fieno DS.

Radiology. 2004 Feb;230(2):383-8. Epub 2003 Dec 29.

PMID:
14699182
47.

Moyamoya syndrome in a child with Down syndrome.

Fung CW, Kwong KL, Tsui EY, Wong SN.

Hong Kong Med J. 2003 Feb;9(1):63-6.

48.

MR imaging of spinal tumors in children with neurofibromatosis 1.

Khong PL, Goh WH, Wong VC, Fung CW, Ooi GC.

AJR Am J Roentgenol. 2003 Feb;180(2):413-7.

PMID:
12540444

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