Lam CW - Search Results

1

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: lam ds, lam cw. 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

2

DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.

Lam CW, Li CK, Lai CK, Tong SF, Chan KY, Ng GS, Yuen YP, Cheng AW, Chan YW. Lam CW, et al. Mol Genet Metab. 2002 Jan;75(1):91-5. doi: 10.1006/mgme.2001.3267. Mol Genet Metab. 2002. PMID: 11825068

3

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

Chan LY, Lam CW, Mak YT, Tomlinson B, Tsang MW, Baum L, Masarei JR, Pang CP. Chan LY, et al. Among authors: lam cw. Hum Mutat. 2002 Sep;20(3):232-3. doi: 10.1002/humu.9054. Hum Mutat. 2002. PMID: 12204001

4

Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

Yuen YP, Cheng WF, Tong SF, Chan YT, Chan YW, Lam CW. Yuen YP, et al. Among authors: lam cw. Mol Genet Metab. 2002 Nov;77(3):249-51. doi: 10.1016/s1096-7192(02)00110-5. Mol Genet Metab. 2002. PMID: 12409273

5

Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death.

Lam CW, Lai CK, Chow CB, Tong SF, Yuen YP, Mak YF, Chan YW. Lam CW, et al. Chin Med J (Engl). 2003 Jul;116(7):1110-2. Chin Med J (Engl). 2003. PMID: 12890396 No abstract available.

6

Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy.

Chen ML, Yu WC, Lam CW, Au KM, Kong FY, Chan AY. Chen ML, et al. Among authors: lam cw. Clin Chim Acta. 2004 Mar;341(1-2):101-7. doi: 10.1016/j.cccn.2003.11.016. Clin Chim Acta. 2004. PMID: 14967164

7

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

Yuen YP, Lai CK, Tong GM, Wong PN, Wong FK, Mak SK, Lo KY, Wong AK, Tong SF, Chan YW, Lam CW. Yuen YP, et al. Among authors: lam cw. J Nephrol. 2004 May-Jun;17(3):436-40. J Nephrol. 2004. PMID: 15365967

8

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

On-Kei Chan A, Lam CW, Tong SF, Man Tung C, Yung K, Chan YW, Au KM, Yuen YP, Hung CT, Ng KP, Shek CC. On-Kei Chan A, et al. Among authors: lam cw. Clin Chim Acta. 2005 Jan;351(1-2):155-9. doi: 10.1016/j.cccn.2004.09.004. Clin Chim Acta. 2005. PMID: 15563885

9

A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.

Lam CW, Chan AO, Lai CK, Chan WH, Chan YW, Shek CC, Tong SF. Lam CW, et al. Chin Med J (Engl). 2004 Dec;117(12):1850-2. Chin Med J (Engl). 2004. PMID: 15603718 No abstract available.

10

Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.

Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF. Lam CW, et al. Clin Chim Acta. 2006 Feb;364(1-2):256-9. doi: 10.1016/j.cca.2005.07.025. Epub 2005 Sep 8. Clin Chim Acta. 2006. PMID: 16153625

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