Yuen YP - Search Results

1

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. Among authors: yuen yp. Chin Med J (Engl). 2011 Jan;124(2):237-41. Chin Med J (Engl). 2011. PMID: 21362373

2

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. Among authors: yuen yp. Chin Med J (Engl). 2003 Jul;116(7):1110-2. Chin Med J (Engl). 2003. PMID: 12890396 No abstract available.

3

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: yuen yp. Chin Med J (Engl). 2011 Apr;124(7):983-9. Chin Med J (Engl). 2011. PMID: 21542954

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. Mol Genet Metab. 2002 Nov;77(3):249-51. doi: 10.1016/s1096-7192(02)00110-5. Mol Genet Metab. 2002. PMID: 12409273

5

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. J Nephrol. 2004 May-Jun;17(3):436-40. J Nephrol. 2004. PMID: 15365967

6

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: yuen yp. Clin Chim Acta. 2005 Jan;351(1-2):155-9. doi: 10.1016/j.cccn.2004.09.004. Clin Chim Acta. 2005. PMID: 15563885

7

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. Among authors: yuen yp. 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

8

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: yuen yp. Sleep Breath. 2010 Jun;14(2):161-5. doi: 10.1007/s11325-009-0288-9. Epub 2009 Aug 11. Sleep Breath. 2010. PMID: 19669818

9

Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.

Lee HC, Lai CK, Siu TS, Yuen YP, Chan KY, Chan AY, Tam S, Mak CM, Lam CW. Lee HC, et al. Among authors: yuen yp. Diagn Mol Pathol. 2010 Sep;19(3):184-6. doi: 10.1097/PDM.0b013e3181c9a8a8. Diagn Mol Pathol. 2010. PMID: 20736750

10

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: yuen yp. 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

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