Search Results - "Chen, Sammy P.L."

Association of serum vitamin D concentration and miscarriage rate in women with first-trimester threatened miscarriage by Ko, Jennifer K.Y., Chen, Sammy P.L., Lam, Kevin K.W., Li, Raymond H.W., Ng, Ernest H.Y.

“…Is low serum 25-hydroxyvitamin D (25(OH)D) associated with an increased risk of miscarriage in women who presented with threatened miscarriage to the Early…”
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Slimming agent related toxicity – a 10-year review at a tertiary toxicology laboratory in Hong Kong by Lau, Nike K.C., Chong, Y.K., Ching, C.K., Chen, Sammy P.L., Lee, Hencher H.C., Mak, Tony W.L.

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Detection of gross deletions in SLC25A13 with in-house multiplex ligation-dependent probe amplification (MLPA) probemix for molecular diagnosis of citrin deficiency by Lau, Nike K.C., Lee, Hencher H.C., Chen, Sammy P.L., Ching, C.K., Shek, C.C., Yuen, Y.P., Mak, Chloe M.

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Differentiating episodic ataxia type 2 from migraine: a case report by Wu, H J, Lau, W L, Chan, T Y C, Chen, S P L, Ko, C H

“…The periodic appearance of ostensibly functional symptoms is often misinterpreted as migrainous; notably, 50% of EA2 cases fulfil the International Headache…”
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Optimising the utility of pleural fluid adenosine deaminase for the diagnosis of adult tuberculous pleural effusion in Hong Kong by Chang, K C, Chan, M C, Leung, W M, Kong, F Y, Mak, C M, Chen, S Pl, Yu, W C

“…Pleural fluid adenosine deaminase level can be applied to rapidly detect tuberculous pleural effusion. We aimed to establish a local diagnostic cut-off value…”
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Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives by Mak, C M, Mok, N S, Shum, H C, Siu, W K, Chong, Y K, Lee, H H C, Fong, N C, Tong, S F, Lee, K W, Ching, C K, Chen, S P L, Cheung, W L, Tso, C B, Poon, W M, Lau, C L, Lo, Y K, Tsui, P T, Shum, S F, Lee, K C

“…Sudden arrhythmia death syndrome (SADS) accounts for about 30% of causes of sudden cardiac death (SCD) in young people. In Hong Kong, there are scarce data on…”
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Case series on a diversity of illicit weight‐reducing agents: from the well known to the unexpected by Tang, Magdalene H. Y., Chen, Sammy P. L., Ng, Sau W., Chan, Albert Y. W., Mak, Tony W. L.

“…WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT Adulteration of over‐the‐counter proprietary medications has been reported previously. However, to date a detailed…”
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The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong by Mak, C M, Law, E Cy, Lee, H Hc, Siu, W K, Chow, K M, Au Yeung, S Kc, Ngan, H Ys, Tse, N Kc, Kwong, N S, Chan, G Cf, Lee, K W, Chan, W P, Wong, S F, Tang, M Hy, Kan, A Sy, Hui, A Pw, So, P L, Shek, C C, Lee, R Sy, Wong, K Y, Yau, E Kc, Poon, K H, Siu, S, Poon, G Wk, Kwok, A Mk, Ng, J Wy, Yim, V Cs, Ma, G Gy, Chu, C H, Tong, T Y, Chong, Y K, Chen, S Pl, Ching, C K, Chan, A Ok, Tam, S, Lau, R Lk, Ng, W F, Lee, K C, Chan, A Yw, Lam, C W

“…Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a…”
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Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience by Mak, C M, Chen, S Pl, Mok, N S, Siu, W K, Lee, H Hc, Ching, C K, Tsui, P T, Fong, N C, Yuen, Y P, Poon, W T, Law, C Y, Chong, Y K, Chan, Y W, Yung, T C, Fan, K Yy, Lam, C W

“…Hereditary channelopathies and cardiomyopathies are potentially lethal and are clinically and genetically heterogeneous, involving at least 90 genes. Genetic…”
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Psychosis associated with usage of herbal slimming products adulterated with sibutramine: a case series by Chen, Sammy P.L., Tang, Magdalene H.Y., Ng, Sau Wah, Poon, Wing Tat, Chan, Albert Y.W., Mak, Tony W.L.

“…Context. Sibutramine, or its structurally related analogs, is often found as an adulterant in proprietary herbal slimming products in Hong Kong. A few solitary…”
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A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia by Tam, Vicki H K, Chen, Sammy P L, Mak, Chole M, Fung, L M, Lee, C Y, Chan, Albert Y W

“…Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine…”
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RYR1-related central core myopathy in a Chinese adolescent boy by Chan, B, Chen, S P L, Wong, W C, Mak, C M, Wong, S, Chan, K Y, Chan, A Y W

“…Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. It is also considered an allelic disease of…”
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Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients by Mak, Chloe M, Chan, K Y, Yau, Eric K C, Chen, Sammy P L, Siu, W K, Law, C Y, Lam, C W, Chan, Albert Y W

“…Epilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic…”
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Mad honey poisoning mimicking acute myocardial infarction by Chen, Sammy PL, Lam, YH, Ng, Vember CH, Lau, FL, Sze, YC, Chan, WT, Mak, Tony WL

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