Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Hencher Han Chih Lee"'
Autor:
Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing kei, Eric Kin Cheong Yau, Joannie Hui
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA dele
Externí odkaz:
https://doaj.org/article/8bb12e590c0c46be9b44c707371314f4
Autor:
Sau Wing Yim, Tina Yee Ching Chan, Kiran M. Belaramani, Sze Shun Man, Felix Chi Kin Wong, Sammy Pak Lam Chen, Hencher Han Chih Lee, Chloe Miu Mak, Chor Kwan Ching
Publikováno v:
F1000Research, Vol 8 (2019)
Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevai
Externí odkaz:
https://doaj.org/article/00ac1c515c5148708a69f2ac99350c53
Autor:
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23663- (2024)
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of conge
Externí odkaz:
https://doaj.org/article/57424c0bd7fa41e8b7a2a3a71d9c5f27
Autor:
Y K Chong, Y P Yuen, Chloe Miu Mak, C C Shek, Candy Wai Yan Ng, Mei Tik Leung, Chor Kwan Ching, Sammy Pak-Lam Chen, Hencher Han Chih Lee, Nike Kwai Cheung Lau, Tammy Tsz Yan Tong
Publikováno v:
Pathology. 53:867-874
Citrin deficiency is one of the most common inborn errors of metabolism in East Asians, which may manifest as neonatal cholestasis, failure to thrive and dyslipidaemia, or recurrent hyperammonaemic encephalopathy. Its molecular diagnosis requires con
Autor:
Sammy Pak-Lam Chen, Sau Wah Ng, Y K Chong, Chor Kwan Ching, Hencher Han Chih Lee, Tony W L Mak, Nike Kwai Cheung Lau, Magdalene H.Y. Tang
Publikováno v:
Clinical toxicology (Philadelphia, Pa.). 59(5)
This retrospective case-series study aims to provide an overview of the clinical, biochemical and analytical findings in patients who presented with toxicity related to the use of illegitimate slimming agents in Hong Kong from the perspective of a te
Autor:
Eric Kin-Cheong Yau, Vincent Mok, Hencher Han Chih Lee, Lisa Wing Chi Au, Anne Yin Yan Chan, Ching-Wan Lam, Bun Sheng, Chloe Miu Mak, Claire K.Y. Lau, Albert Yan-Wo Chan, Kwok Yin Chan
Publikováno v:
Clinical neurology and neurosurgery. 199
Autor:
Ying Hoo Lam, Suzanne Suk San Chan, Sammy Pak-Lam Chen, Nike Kwai Cheung Lau, Jana Wing Lan Cheung, Magdalene H.Y. Tang, Hencher Han Chih Lee, Sau Wah Ng, Chor Kwan Ching, Tony W L Mak, M. L. Chen, Y K Chong, Tina Yee Ching Chan, Candy Wai Yan Ng
Publikováno v:
British Journal of Clinical Pharmacology. 84:172-178
Aims Proprietary Chinese medicines (pCMs) and health products, generally believed to be natural and safe, are gaining popularity worldwide. However, the safety of pCMs and health products has been severely compromised by the practice of adulteration.
Autor:
Nike Kwai Cheung Lau, Wai Kwong Mario Chak, Chloe Miu Mak, Chor Kwan Ching, Hencher Han Chih Lee, Ng Kwan Shing, Neil A. Hanchard
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 486
Background Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations. Patient
Autor:
Man-Mut Yau, Wai-Kwan Siu, Cheuk-Wing Fung, Chloe Miu Mak, Hencher Han-Chih Lee, Chun-Yiu Law, Ching-Wan Lam, Kwai-Fun Huen
Publikováno v:
Clinica Chimica Acta. 448:211-214
Background Clinical diagnosis of POLG-related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders. Case We report a case of POLG-related disorder in an 18 y Chines
Autor:
Chor Kwan, Ching, Sammy Pak Lam, Chen, Hencher Han Chih, Lee, Ying Hoo, Lam, Sau Wah, Ng, Mo Lung, Chen, Magdalene Huen Yin, Tang, Suzanne Suk San, Chan, Candy Wai Yan, Ng, Jana Wing Lan, Cheung, Tina Yee Ching, Chan, Nike Kwai Cheung, Lau, Yeow Kuan, Chong, Tony Wing Lai, Mak
Publikováno v:
British journal of clinical pharmacology. 84(1)
Proprietary Chinese medicines (pCMs) and health products, generally believed to be natural and safe, are gaining popularity worldwide. However, the safety of pCMs and health products has been severely compromised by the practice of adulteration. The