Lee HH - Search Results

1

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.

Chan TY, Hung LY, Lam TY, Sheng B, Leung FY, Lee HH. Chan TY, et al. Among authors: lee hh. Heliyon. 2023 Dec 11;10(1):e23663. doi: 10.1016/j.heliyon.2023.e23663. eCollection 2024 Jan 15. Heliyon. 2023. PMID: 38187266 Free PMC article.

2

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants.

Yim SW, Chan TYC, Belaramani KM, Man SS, Wong FCK, Chen SPL, Lee HHC, Mak CM, Ching CK. Yim SW, et al. F1000Res. 2019 Sep 2;8:1566. doi: 10.12688/f1000research.20343.1. eCollection 2019. F1000Res. 2019. PMID: 31723421 Free PMC article.

3

Cholinergic Mushroom Poisoning With a Detection of Muscarine Toxin in Urine.

Chan TYC, Ng SW, Chan CK, Lee HHC, Mak TWL. Chan TYC, et al. J Med Cases. 2023 Jun;14(6):222-226. doi: 10.14740/jmc4109. Epub 2023 Jun 29. J Med Cases. 2023. PMID: 37435104 Free PMC article.

4

Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome.

Mak CM, Sheng B, Lee HH, Lau KK, Chan WT, Lam CW, Chan YW. Mak CM, et al. Among authors: lee hh. Int J Neurosci. 2011 Apr;121(4):224-7. doi: 10.3109/00207454.2010.542843. Epub 2011 Jan 4. Int J Neurosci. 2011. PMID: 21198414

5

Clinical manifestation of late onset Pompe disease patients in Hong Kong.

Chu YP, Sheng B, Lau KK, Chan HF, Kam GY, Lee HH, Mak CM. Chu YP, et al. Among authors: lee hh. Neuromuscul Disord. 2016 Dec;26(12):873-879. doi: 10.1016/j.nmd.2016.09.004. Epub 2016 Sep 13. Neuromuscul Disord. 2016. PMID: 27692865

6

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.

7

Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.

Au LWC, Lee HHC, Sheng B, Chan KY, Yau EKC, Mak CM, Chan AYW, Chan AYY, Lau CKY, Mok VCT, Lam CW. Au LWC, et al. Clin Neurol Neurosurg. 2020 Dec;199:106258. doi: 10.1016/j.clineuro.2020.106258. Epub 2020 Sep 30. Clin Neurol Neurosurg. 2020. PMID: 33031988 No abstract available.

8

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

9

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

Lam CW, Law CY, Siu WK, Fung CW, Yau MM, Huen KF, Lee HH, Mak CM. Lam CW, et al. Among authors: lee hh. Clin Chim Acta. 2015 Aug 25;448:211-4. doi: 10.1016/j.cca.2015.06.028. Epub 2015 Jul 11. Clin Chim Acta. 2015. PMID: 26169155

10

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

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