Chan AY - 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: chan ay. 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

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: chan ky, chan ay. Diagn Mol Pathol. 2010 Sep;19(3):184-6. doi: 10.1097/PDM.0b013e3181c9a8a8. Diagn Mol Pathol. 2010. PMID: 20736750

3

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: chan kw, chan ay. Chin Med J (Engl). 2011 Jan;124(2):237-41. Chin Med J (Engl). 2011. PMID: 21362373

4

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: chan ao, chan ay. Chin Med J (Engl). 2011 Apr;124(7):983-9. Chin Med J (Engl). 2011. PMID: 21542954

5

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: chan ay. Chin Med J (Engl). 2011 Aug;124(16):2556-8. Chin Med J (Engl). 2011. PMID: 21933604

6

Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.

Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY. Lee HC, et al. Among authors: chan ky, chan ay. Clin Chim Acta. 2012 Jan 18;413(1-2):126-30. doi: 10.1016/j.cca.2011.09.008. Epub 2011 Sep 21. Clin Chim Acta. 2012. PMID: 21963339

7

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: chan ay. Diagn Mol Pathol. 2012 Mar;21(1):56-9. doi: 10.1097/PDM.0b013e318220bb0e. Diagn Mol Pathol. 2012. PMID: 22306677

8

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: chan ay. Diagn Mol Pathol. 2012 Sep;21(3):184-7. doi: 10.1097/PDM.0b013e31825554d0. Diagn Mol Pathol. 2012. PMID: 22847164

9

Inborn errors of metabolism and expanded newborn screening: review and update.

Mak CM, Lee HC, Chan AY, Lam CW. Mak CM, et al. Among authors: chan ay. Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62. doi: 10.3109/10408363.2013.847896. Crit Rev Clin Lab Sci. 2013. PMID: 24295058 Review.

10

A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy.

Hung CN, Poon WT, Lee CY, Law CY, Chan AY. Hung CN, et al. Among authors: chan ay. J Pediatr Endocrinol Metab. 2012;25(1-2):175-9. doi: 10.1515/jpem-2011-0437. J Pediatr Endocrinol Metab. 2012. PMID: 22570972

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