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Items: 35

1.

The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.

Mak CM, Law EC, Lee HH, Siu WK, Chow KM, Au Yeung SK, Ngan HY, Tse NK, Kwong NS, Chan GC, Lee KW, Chan WP, Wong SF, Tang MH, Kan AS, Hui AP, So PL, Shek CC, Lee RS, Wong KY, Yau EK, Poon KH, Siu S, Poon GW, Kwok AM, Ng JW, Yim VC, Ma GG, Chu CH, Tong TY, Chong YK, Chen SP, Ching CK, Chan AO, Tam S, Lau RL, Ng WF, Lee KC, Chan AY, Lam CW.

Hong Kong Med J. 2018 Jun;24(3):226-237. doi: 10.12809/hkmj176939. Epub 2018 Jun 4.

2.

Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.

Mak CM, Chen SP, Mok NS, Siu WK, Lee HH, Ching CK, Tsui PT, Fong NC, Yuen YP, Poon WT, Law CY, Chong YK, Chan YW, Yung TC, Fan KY, Lam CW.

Hong Kong Med J. 2018 Mar 2. doi: 10.12809/hkmj176870. [Epub ahead of print]

3.

Small interfering RNAs based on huntingtin trinucleotide repeats are highly toxic to cancer cells.

Murmann AE, Gao QQ, Putzbach WE, Patel M, Bartom ET, Law CY, Bridgeman B, Chen S, McMahon KM, Thaxton CS, Peter ME.

EMBO Rep. 2018 Mar;19(3). pii: e45336. doi: 10.15252/embr.201745336. Epub 2018 Feb 12.

PMID:
29440125
4.

Induction of DISE in ovarian cancer cells in vivo.

Murmann AE, McMahon KM, Haluck-Kangas A, Ravindran N, Patel M, Law CY, Brockway S, Wei JJ, Thaxton CS, Peter ME.

Oncotarget. 2017 Oct 4;8(49):84643-84658. doi: 10.18632/oncotarget.21471. eCollection 2017 Oct 17.

5.

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

Lam CW, Yeung WL, Law CY.

Clin Chim Acta. 2017 Jun;469:63-68. doi: 10.1016/j.cca.2017.03.022. Epub 2017 Mar 23.

PMID:
28343847
6.

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

Lam CW, Wong KS, Leung HW, Law CY.

Eur J Hum Genet. 2017 Feb;25(2):192-199. doi: 10.1038/ejhg.2016.162. Epub 2016 Dec 14.

7.

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients.

Law CY, Yeung WL, Cheung YF, Chan HF, Fung E, Hui J, Yung IO, Yuen YP, Chan AO, Lam CW.

Hong Kong Med J. 2016 Dec;22(6):619-22. doi: 10.12809/hkmj154579. No abstract available.

8.

Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease.

Shea YF, Chan AO, Chu LW, Lee SC, Law CY, See CH, Yiu KL, Chiu PK.

Neurobiol Aging. 2017 Feb;50:168.e9-168.e11. doi: 10.1016/j.neurobiolaging.2016.10.015. Epub 2016 Oct 15.

PMID:
27816212
9.

Lipid metabolites as potential diagnostic and prognostic biomarkers for acute community acquired pneumonia.

To KK, Lee KC, Wong SS, Sze KH, Ke YH, Lui YM, Tang BS, Li IW, Lau SK, Hung IF, Law CY, Lam CW, Yuen KY.

Diagn Microbiol Infect Dis. 2016 Jun;85(2):249-54. doi: 10.1016/j.diagmicrobio.2016.03.012. Epub 2016 Mar 14.

PMID:
27105773
10.

Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.

Cho SY, Law CY, Ng KL, Lam CW.

Clin Chim Acta. 2016 Apr 1;455:84-6. doi: 10.1016/j.cca.2016.01.032. Epub 2016 Jan 29.

PMID:
26828532
11.

Lysosomal membrane permeabilization is involved in oxidative stress-induced apoptotic cell death in LAMP2-deficient iPSCs-derived cerebral cortical neurons.

Law CY, Siu CW, Fan K, Lai WH, Au KW, Lau YM, Wong LY, Ho JCY, Lee YK, Tse HF, Ng KM.

Biochem Biophys Rep. 2016 Jan 14;5:335-345. doi: 10.1016/j.bbrep.2016.01.010. eCollection 2016 Mar.

12.

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

Law CY, Chang ST, Cho SY, Yau EK, Ng GS, Fong NC, Lam CW.

Clin Chim Acta. 2015 Dec 7;451(Pt B):292-6. doi: 10.1016/j.cca.2015.10.011. Epub 2015 Oct 17.

PMID:
26485252
13.

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
14.

Lipid mediators of inflammation as novel plasma biomarkers to identify patients with bacteremia.

To KK, Lee KC, Wong SS, Lo KC, Lui YM, Jahan AS, Wu AL, Ke YH, Law CY, Sze KH, Lau SK, Woo PC, Lam CW, Yuen KY.

J Infect. 2015 May;70(5):433-44. doi: 10.1016/j.jinf.2015.02.011. Epub 2015 Feb 26.

PMID:
25727996
15.

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.

Lam CW, Law CY, Leung KF, Lai CK, Pak-lam Chen S, Chan B, Chan KY, Yuen YP, Mak CM, Yan-wo Chan A.

Clin Chim Acta. 2015 Feb 2;440:201-4. doi: 10.1016/j.cca.2014.10.030. Epub 2014 Oct 25.

PMID:
25445412
16.

NMR-based urinalysis for beta-ketothiolase deficiency.

Law CY, Lam CW, Ching CK, Yau KC, Ho TW, Lai CK, Mak CM.

Clin Chim Acta. 2015 Jan 1;438:222-5. doi: 10.1016/j.cca.2014.08.041. Epub 2014 Sep 4.

PMID:
25195009
17.

Untargeted mass spectrometry-based metabolomic profiling of pleural effusions: fatty acids as novel cancer biomarkers for malignant pleural effusions.

Lam CW, Law CY.

J Proteome Res. 2014 Sep 5;13(9):4040-6. doi: 10.1021/pr5003774. Epub 2014 Aug 21.

PMID:
25117182
18.

Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: evaluation of a microbial-mammalian co-metabolite as a diagnostic biomarker.

Lam CW, Law CY, Sze KH, To KK.

Clin Chim Acta. 2015 Jan 1;438:24-8. doi: 10.1016/j.cca.2014.07.038. Epub 2014 Aug 6.

PMID:
25108210
19.

Pleural effusion lipoproteins measured by NMR spectroscopy for diagnosis of exudative pleural effusions: a novel tool for pore-size estimation.

Lam CW, Law CY.

J Proteome Res. 2014 Sep 5;13(9):4104-12. doi: 10.1021/pr5004856. Epub 2014 Aug 5.

PMID:
25072840
20.

2,4-Dinitrophenol: a threat to Chinese body-conscious groups.

Lee HC, Law CY, Chen ML, Lam YH, Chan AY, Mak TW.

J Chin Med Assoc. 2014 Aug;77(8):443-5. doi: 10.1016/j.jcma.2014.05.003. Epub 2014 Jul 12.

21.

NMR-based metabolomic urinalysis: a rapid screening test for urinary tract infection.

Lam CW, Law CY, To KK, Cheung SK, Lee KC, Sze KH, Leung KF, Yuen KY.

Clin Chim Acta. 2014 Sep 25;436:217-23. doi: 10.1016/j.cca.2014.05.014. Epub 2014 Jun 6.

PMID:
24909875
22.

Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells.

Ng KM, Law CY, Tse HF.

J Clin Med. 2014 Oct 15;3(4):1105-23. doi: 10.3390/jcm3041105. Review.

23.

Parental attitudes on expanded newborn screening in Hong Kong.

Mak CM, Lam CW, Law CY, Siu WK, Kwong LL, Chan KL, Chan WT, Chow KM, Lee KW, Chan WP, Chan AY.

Public Health. 2012 Nov;126(11):954-9. doi: 10.1016/j.puhe.2012.08.002. Epub 2012 Nov 10.

PMID:
23148889
24.

Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients.

Mak CM, Siu WK, Law CY, Wong CK, Lee HK, Yeung S, Sham CO, Tse K, Lee HH, Chen SP, Ching CK, Au CK, Poon WT, Lam CW, Kwong NS, Chan AY.

J Clin Pathol. 2012 Dec;65(12):1141-5. doi: 10.1136/jclinpath-2012-200837. Epub 2012 Aug 10.

PMID:
22888119
25.
26.

Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients.

Mak CM, Chan KY, Yau EK, Chen SP, Siu WK, Law CY, Lam CW, Chan AY.

Hong Kong Med J. 2011 Dec;17(6):500-2.

27.

Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

Mak CM, Ko CH, Lam CW, Lau WL, Siu WK, Chen SP, Law CY, Lai CK, Yu CM, Chan AY.

Chin Med J (Engl). 2011 Aug;124(16):2556-8.

PMID:
21933604
28.

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.

Siu WK, Law CY, Lam CW, Mak CM, Wong GW, Ho AY, Ho KY, Loo KT, Chiu SC, Chow LT, Tong SF, Chan AY.

Fam Cancer. 2011 Dec;10(4):695-9. doi: 10.1007/s10689-011-9466-6.

PMID:
21732217
29.

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

Mak CM, Lam CW, Fong NC, Siu WK, Lee HC, Siu TS, Lai CK, Law CY, Tong SF, Poon WT, Lam DS, Ng HL, Yuen YP, Tam S, Que TL, Kwong NS, Chan AY.

J Hum Genet. 2011 Aug;56(8):617-21. doi: 10.1038/jhg.2011.63. Epub 2011 Jun 23.

PMID:
21697855
30.

Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.

Lee HC, Mak CM, Lam CW, Yuen YP, Chan AO, Shek CC, Siu TS, Lai CK, Ching CK, Siu WK, Chen SP, Law CY, Tai HL, Tam S, Chan AY.

Chin Med J (Engl). 2011 Apr;124(7):983-9.

PMID:
21542954
31.

Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment.

Lau KC, Lam CW, Law CY, Lai ST, Tsang TY, Siu CW, To WK, Leung KF, Mak CM, Poon WT, Chan PK, Chan YW.

Clin Chim Acta. 2011 May 12;412(11-12):952-7. doi: 10.1016/j.cca.2011.01.030. Epub 2011 Feb 16.

PMID:
21310144
32.

Early eradication of persistent Salmonella infection primes antibody-mediated protective immunity to recurrent infection.

Johanns TM, Law CY, Kalekar LA, O'Donnell H, Ertelt JM, Rowe JH, Way SS.

Microbes Infect. 2011 Apr;13(4):322-30. doi: 10.1016/j.micinf.2010.11.004. Epub 2010 Dec 4.

33.

Self-perceived musculoskeletal complaints: relationship to time use in women homemakers in Hong Kong.

Fong KN, Law CY.

J Occup Rehabil. 2008 Sep;18(3):273-81. doi: 10.1007/s10926-008-9142-3. Epub 2008 Jul 8.

PMID:
18607696
34.

Video-assisted thoracic surgery thymectomy for nonthymomatous myasthenia gravis.

Manlulu A, Lee TW, Wan I, Law CY, Chang C, Garzon JC, Yim A.

Chest. 2005 Nov;128(5):3454-60.

PMID:
16304299
35.

Incidence of chest wall paresthesia after video-assisted thoracic surgery for primary spontaneous pneumothorax.

Sihoe AD, Au SS, Cheung ML, Chow IK, Chu KM, Law CY, Wan M, Yim AP.

Eur J Cardiothorac Surg. 2004 Jun;25(6):1054-8.

PMID:
15145009

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