Lau NK - Search Results

1

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia.

Law CY, Kwok AM, Ling TK, Wong KC, Lau NK, Poon GW, Lam CW. Law CY, et al. Among authors: lau nk. Pathology. 2022 Jun;54(4):505-508. doi: 10.1016/j.pathol.2021.07.013. Epub 2021 Oct 23. Pathology. 2022. PMID: 34702582 No abstract available.

2

Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.

Lau NKC, Ng SKW, Chan IHS, Ng KS, Kwok JSS. Lau NKC, et al. Pathology. 2019 Aug;51(5):557-561. doi: 10.1016/j.pathol.2019.02.008. Epub 2019 Jun 12. Pathology. 2019. PMID: 31201003 No abstract available.

3

McArdle disease presenting as abnormal liver function: biochemical, anatomical and genetic characterisation in the first genetically confirmed Chinese family with a novel splicing variant.

Lau NKC, Chong YK, Cheung KPK, Loo KT, Ching CK. Lau NKC, et al. Pathology. 2021 Aug;53(5):670-673. doi: 10.1016/j.pathol.2020.09.019. Epub 2020 Dec 10. Pathology. 2021. PMID: 33309034 No abstract available.

4

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.

Lau NKC, Lee HHC, Chen SPL, Ng CWY, Mak CM, Chong YK, Tong TTY, Leung MT, Shek CC, Yuen YP, Ching CK. Lau NKC, et al. Pathology. 2021 Dec;53(7):867-874. doi: 10.1016/j.pathol.2021.02.010. Epub 2021 May 25. Pathology. 2021. PMID: 34045052

5

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion.

Law CY, Leung SC, Loong F, Ling TK, Wong KC, Lau NK, Tsui SH, Lai CL, Lam CW. Law CY, et al. Among authors: lau nk. Clin Toxicol (Phila). 2022 Feb;60(2):255-258. doi: 10.1080/15563650.2021.1919692. Epub 2021 May 28. Clin Toxicol (Phila). 2022. PMID: 34047646

6

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: lau nk. 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

7

Solving a diagnostic challenge with nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency.

Lau NKC, Tong TTY, Chong YK, Ching CK. Lau NKC, et al. Pathology. 2024 Sep 30:S0031-3025(24)00243-5. doi: 10.1016/j.pathol.2024.07.010. Online ahead of print. Pathology. 2024. PMID: 39472270 No abstract available.

8

Adulteration of proprietary Chinese medicines and health products with undeclared drugs: experience of a tertiary toxicology laboratory in Hong Kong.

Ching CK, Chen SPL, Lee HHC, Lam YH, Ng SW, Chen ML, Tang MHY, Chan SSS, Ng CWY, Cheung JWL, Chan TYC, Lau NKC, Chong YK, Mak TWL. Ching CK, et al. Br J Clin Pharmacol. 2018 Jan;84(1):172-178. doi: 10.1111/bcp.13420. Epub 2017 Oct 4. Br J Clin Pharmacol. 2018. PMID: 28965348 Free PMC article.

9

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.

Hung LY, Ling TK, Lau NKC, Cheung WL, Chong YK, Sheng B, Kwok KM, Mak CM. Hung LY, et al. J Clin Neurosci. 2018 Oct;56:95-100. doi: 10.1016/j.jocn.2018.06.050. Epub 2018 Jul 3. J Clin Neurosci. 2018. PMID: 29980472

10

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.

Lau NKC, Ching CK, Lee HHC, Chak WKM, Kwan Shing N, Hanchard NA, Mak CM. Lau NKC, et al. Clin Chim Acta. 2018 Nov;486:151-155. doi: 10.1016/j.cca.2018.07.040. Epub 2018 Jul 24. Clin Chim Acta. 2018. PMID: 30053402

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