Chan KY - Search Results

1

Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.

Lee RS, Lam CW, Lai CK, Yuen YP, Chan KY, Shek CC, Chan AY, Chow CB. Lee RS, et al. Among authors: chan ky, chan ay. Hong Kong Med J. 2007 Feb;13(1):66-8. Hong Kong Med J. 2007. PMID: 17277394 Free article.

2

Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder.

Chan KY, Li CK, Lai CK, Ng SF, Chan AY. Chan KY, et al. Among authors: chan ay. Hong Kong Med J. 2002 Aug;8(4):279-82. Hong Kong Med J. 2002. PMID: 12167732 Free article. Review.

3

Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.

Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP. Chan KY, et al. Hong Kong Med J. 2008 Feb;14(1):70-3. Hong Kong Med J. 2008. PMID: 18239249 Free article.

4

Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

Chan KY, Ching CK, Mak CM, Lam CW, Chan AY. Chan KY, et al. Among authors: chan ay. Hong Kong Med J. 2009 Aug;15(4):304-7. Hong Kong Med J. 2009. PMID: 19652243 Free article.

5

A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia.

Lee SY, Chan KY, Chan AY, Lai CK. Lee SY, et al. Among authors: chan ky, chan ay. Ann Acad Med Singap. 2006 Aug;35(8):582-4. Ann Acad Med Singap. 2006. PMID: 17006587 Free article.

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

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

8

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.

Lam CW, Law CY, Leung KF, Lai CK, Pak-lam Chen S, Chan B, Chan KY, Yuen YP, Mak CM, Yan-wo Chan A. Lam CW, et al. Among authors: chan b, chan ky. Clin Chim Acta. 2015 Feb 2;440:201-4. doi: 10.1016/j.cca.2014.10.030. Epub 2014 Oct 25. Clin Chim Acta. 2015. PMID: 25445412

9

RYR1-related central core myopathy in a Chinese adolescent boy.

Chan B, Chen SP, Wong WC, Mak CM, Wong S, Chan KY, Chan AY. Chan B, et al. Among authors: chan ky, chan ay. Hong Kong Med J. 2011 Feb;17(1):67-70. Hong Kong Med J. 2011. PMID: 21282829 Free article.

10

Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients.

Mak CM, Chan KY, Yau EK, Chen SP, Siu WK, Law CY, Lam CW, Chan AY. Mak CM, et al. Among authors: chan ky, chan ay. Hong Kong Med J. 2011 Dec;17(6):500-2. Hong Kong Med J. 2011. PMID: 22147323 Free article.

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