Chan AY - Search Results

1

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.

2

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

3

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

4

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

5

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. Mak CM, et al. Among authors: chan ay. J Clin Pathol. 2012 Dec;65(12):1141-5. doi: 10.1136/jclinpath-2012-200837. Epub 2012 Aug 10. J Clin Pathol. 2012. PMID: 22888119

6

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

7

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

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

10

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.

Ling TK, Wong KC, Chan CY, Lau NK, Law CY, Lee HH, Lai CK, Chong YK, Yau KE, Cheung KM, Ko CH, Fung CW, Lee LK, Wong SS, Mak CM, Chan AY, Tam S, Lam CW. Ling TK, et al. Among authors: chan ay, chan cy. Clin Chim Acta. 2021 Oct;521:40-44. doi: 10.1016/j.cca.2021.06.025. Epub 2021 Jun 20. Clin Chim Acta. 2021. PMID: 34161777

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