Siu WK - Search Results

1

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea.

Shuk-kuen Chau C, Kwok KL, Ng DK, Lam CW, Tong SF, Chan YW, Siu WK, Yuen YP. Shuk-kuen Chau C, et al. Among authors: siu wk. Sleep Breath. 2010 Jun;14(2):161-5. doi: 10.1007/s11325-009-0288-9. Epub 2009 Aug 11. Sleep Breath. 2010. PMID: 19669818

2

Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

Siu WK, Ma RC, Lam CW, Mak CM, Yuen YP, Lo FM, Chan KW, Lam SF, Ling SC, Tong SF, So WY, Chow CC, Tang MH, Tam WH, Chan AY. Siu WK, et al. Chin Med J (Engl). 2011 Jan;124(2):237-41. Chin Med J (Engl). 2011. PMID: 21362373

3

X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.

Cho SY, Lam CW, Tong SF, Siu WK. Cho SY, et al. Among authors: siu wk. Clin Chim Acta. 2013 Nov 15;426:75-8. doi: 10.1016/j.cca.2013.08.026. Epub 2013 Sep 18. Clin Chim Acta. 2013. PMID: 24055370

4

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. Mak CM, et al. Among authors: siu ts, siu wk. J Hum Genet. 2011 Aug;56(8):617-21. doi: 10.1038/jhg.2011.63. Epub 2011 Jun 23. J Hum Genet. 2011. PMID: 21697855

5

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. Lam CW, et al. Among authors: siu wk. Clin Chim Acta. 2015 Aug 25;448:211-4. doi: 10.1016/j.cca.2015.06.028. Epub 2015 Jul 11. Clin Chim Acta. 2015. PMID: 26169155

6

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.

Siu WK, Mak CM, Siu SL, Siu TS, Pang CY, Lam CW, Kwong NS, Chan AY. Siu WK, et al. Among authors: siu sl, siu ts. Diagn Mol Pathol. 2012 Sep;21(3):184-7. doi: 10.1097/PDM.0b013e31825554d0. Diagn Mol Pathol. 2012. PMID: 22847164

7

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. Lee HC, et al. Among authors: siu ts, siu wk. Chin Med J (Engl). 2011 Apr;124(7):983-9. Chin Med J (Engl). 2011. PMID: 21542954

8

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. Mak CM, et al. Among authors: siu wk. Chin Med J (Engl). 2011 Aug;124(16):2556-8. Chin Med J (Engl). 2011. PMID: 21933604

9

Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.

Mak CM, Lee CY, Lam CW, Siu WK, Hung VC, Chan AY. Mak CM, et al. Among authors: siu wk. Diagn Mol Pathol. 2012 Mar;21(1):56-9. doi: 10.1097/PDM.0b013e318220bb0e. Diagn Mol Pathol. 2012. PMID: 22306677

10

Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism.

Siu WK, Lam CW, Gao WW, Vincent Tang HM, Jin DY, Mak CM. Siu WK, et al. Behav Brain Res. 2016 Mar 1;300:135-42. doi: 10.1016/j.bbr.2015.10.041. Epub 2015 Oct 27. Behav Brain Res. 2016. PMID: 26518331

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