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Angel On-Kei Chan

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Articles 11
Citations 96
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Recent Articles
1.
Chan S, van Alfen N, Thuestad I, Ip J, Chan A, Mak C, et al.
Neuromuscul Disord . 2018 Aug; 28(9):750-756. PMID: 30122514
We describe four unrelated patients with the same de novo heterozygous missense mutation c.751C>T in the DYNC1H1 gene. We found a high phenotype-genotype correlation with all four patients having early...
2.
Shea Y, Chan A, Chu L, Lee S, Law C, See C, et al.
Neurobiol Aging . 2016 Nov; 50:168.e9-168.e11. PMID: 27816212
Autosomal dominant familial Alzheimer's disease accounts for 0.5% of all Alzheimer's disease. A familial Alzheimer's disease Chinese family, with 7 affected family members, underwent PSEN1 screening in 3 affected family...
3.
Lang B, Shek T, Chan A, Lo C, Wan K
Thyroid . 2016 Oct; 27(1):67-73. PMID: 27750029
Background: To balance the risk of disease progression, morbidity, and efficacy of reoperative central neck dissection (RCND) in papillary thyroid carcinoma, the latest clinical guidelines recommend early surgery over surveillance...
4.
Shea Y, Chu L, Chan A, Ha J, Li Y, Song Y
J Formos Med Assoc . 2015 Sep; 115(2):67-75. PMID: 26337232
There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform...
5.
Shea Y, Chu L, Chan A, Kwan J
J Formos Med Assoc . 2015 Jan; 114(10):1020-1. PMID: 25634826
No abstract available.
6.
Hencher Lee H, Mak C, Lam C, Yuen Y, Chan A, Shek C, et al.
Chin Med J (Engl) . 2011 May; 124(7):983-9. PMID: 21542954
Background: Data of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening...
7.
Chan A, But W, Lau G, Tse W, Shek C
Clin Chim Acta . 2006 Feb; 368(1-2):120-4. PMID: 16460718
Background: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene. Methods: A Chinese neonate with...
8.
Lam C, Lee K, Chan A, Poon P, Law T, Tong S
Clin Chim Acta . 2005 Jun; 360(1-2):167-72. PMID: 15963484
Background: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia resulting from loss-of-function mutations of the CASR (calcium-sensing receptor) gene located on chromosome 3,...
9.
Lam C, Chan A, Tong S, Shek C, Tiu S
Clin Chim Acta . 2005 May; 358(1-2):55-9. PMID: 15913586
Background: Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was...
10.
Lam C, Chan A, Lai C, Chan W, Chan Y, Shek C, et al.
Chin Med J (Engl) . 2004 Dec; 117(12):1850-2. PMID: 15603718
No abstract available.